insulin-like growth factor binding protein 1
alpha-pregnancy-associated endometrial globulin
IGFBP1, a secreted protein, is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. It binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. IGFBP1 promotes cell migration.
Feng Fred Hutchinson Cancer Research Center
Lokshin University of Pittsburgh Cancer Institute
Insulin-like growth factor-binding protein 2
IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Insulin-like growth factor binding protein 2 (IGFBP2) is overexpressed in ovarian malignant tissues and in the serum and cystic fluid of ovarian cancer patients, suggesting an important role of IGFBP2 in the biology of ovarian cancer.
McIntosh Fred Hutchinson Cancer Research Center
Calcitonin/Calcitonin-Related Polypeptide, Alpha
From NCBI Gene: This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
dual specificity mitogen-activated protein kinase kinase 1
mitogen-activated protein kinase kinase 1
MAP2K1, or mitogen-activated protein kinase kinase 1, is a dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. MAP2K1 is located upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. MAP2K1 is thought to be involved in binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors, as well as cellular processes such as proliferation, differentiation, transcription regulation and development.
Boeri miRNA signature of diagnosis of lung cancer
miRNA expression analyses in plasma samples collected 1-2 years before the onset of disease, at the time of CT detection and in disease-free smokers enrolled in the screening trial, resulted in the generation of miRNA signatures with strong predictive, diagnostic, and prognostic potential (area under the ROC curve > or = 0.85). The signature of diagnosis of lung cancer is comprised of 16 ratios composed from 13 miRNAs: 21, 92a, 140-3p, 17, 106a, 140-5p, 660, 19b, 451, 30c, 15b, 28-3p, 486-5p. (from PMID:21300873)
putative secreted ligand homologous to fjx1
FJX1 is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. It is predicted, based on similarity, that human FJX1 may act as an inhibitor of dendrite extension and branching.
Godwin University of Kansas Medical Center
The interleukin 6 receptor is a protein complex consisting of two parts: the IL6R (interleukin 6 receptor) subunit and the IL6ST (interleukin 6 signal transducer) subunit. The IL6R subunit binds to IL6 (interleukin 6) with low affinity, but does not transduce a signal. The IL6ST subunit is needed for signal activation. Impaired regulation of IL6 and IL6R have been linked to many diseases, such as multiple myeloma, autoimmune diseases, and prostate cancer. Isoforms encoded by alternatively spliced transcripts have been reported. Activation of the IL6/IL6R/IL6ST complex may lead to the regulation of the immune response, acute-phase reactions, and hematopoiesis.
Discovered on gastrointestinal stromal tumors protein 1
Tumor-amplified and overexpressed sequence 2
discovered on gastrointestinal stromal tumors protein 1
transmembrane protein 16A (eight membrane-spanning domains)
tumor-amplified and overexpressed sequence 2
anoctamin 1, calcium activated chloride channel
ANO1, or anoctamin-1, is a calcium-activated chloride channel gene overexpressed in many tumors. ANO1 is ubiquitously expressed in epithelia and is thought to be important in epithelial fluid transport.
zinc finger protein 183 (RING finger, C3HC4 type)
RNF113A is a member of the RNF family, or RING-type zinc finger proteins. The RNF proteins are a subset of the larger family of zinc finger proteins. Members of the RNF family have an enzyme activity known as E3 ubiquitin-protein ligase which targets other proteins to be degraded within cells. RNF113A contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is present in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is implicated in mediating protein-protein interactions.
Epithelium-specific Ets transcription factor 3
ETS domain-containing transcription factor
epithelium-specific Ets transcription factor 3
From NCBI Gene: This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Yildiz MALDI MS signature for lung cancer
A serum proteomic signature of seven features identified by MALDI MS has been identified. The serum signature was associated with the diagnosis of lung cancer independently of gender, smoking status, smoking pack-years, and C-reactive protein levels.
pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
connective tissue-activating peptide III
small inducible cytokine subfamily B, member 7
CTAP-III (officially named PPBP) is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and sythesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells.
hexamethylene bisacetamide-inducible protein
Hexamethylene bis-acetamide-inducible protein 1
hexamethylene-bis-acetamide-inducible transcript 1
hexamethylene bis-acetamide-inducible protein 1
HEXIM1 is an intronless transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. HEXIM1 expression is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells.
From NCBI Gene: This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]
GPM6B is a membrane glycoprotein belonging to the proteolipid protein family. It is thought to be involved in neural development. This protein family is expressed in the brain and may be involved in cellular housekeeping functions. GPM6B is involved in the regulation of osteoblast function and bone formation and matrix vesicle release by osteoblasts. GPM6B may be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake.
Tumor necrosis factor-inducible gene 6 protein
tumor necrosis factor, alpha-induced protein 6
tumor necrosis factor-inducible gene 6 protein
tumor necrosis factor-stimulated gene-6 protein
From NCBI Gene: The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]
subtractive immunization M plus HEp3-associated 135 kDa protein
Subtractive immunization M plus HEp3-associated 135 kDa protein
Transmembrane and associated with src kinases
transmembrane and associated with src kinases
CDCP1 is a transmembrane protein containing three extracellular CUB domains. It is found to be overexpressed in colon and lung cancers. Its expression level is correlated with the metastatic ability of carcinoma cells. CDCP1 is located on the cell surface and may be involved in cell adhesion and cell matrix association. Alternatively spliced transcript variants encoding distinct isoforms have been reported.
signal transducer and activator of transcription 6
signal transducer and activator of transcription 6, interleukin-4 induced
STAT6 is a member of the STAT family of transcription factors. STAT family members are phosphorylated by the receptor associated kinases in response to cytokines and growth factors and are involved in signal transduction and activation of transcription. There are several transcript variants produced by alternative splicing.
JUNB, or jun B proto-oncogene, is a transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'.
SH2 domain-containing leukocyte protein of 76kD
lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)
SH2 domain-containing leukocyte protein of 76 kDa
lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LCP2, previously known as SLP76, functions as an adaptor or scaffolding protein. LCP2 has three modular domains. The amino-terminal end has an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. LCP2 also contains a central proline-rich domain and a COOH-terminal SH2 domain.
tumor necrosis factor receptor-1-associated protein
tumor necrosis factor receptor type 1-associated DEATH domain protein
tumor necrosis factor receptor type 1 associated death domain protein
From NCBI Gene: The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]
heparan sulfate proteoglycan fibroblast growth factor receptor
SDC1 is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The SDC1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins.
B lymphocyte activator macrophage expressed
B-lymphocyte activator macrophage expressed
SLAMF8 is a membrane protein belonging to the CD2 family of cell surface proteins. This protein family is characterized by Ig domains. SLAMF8 is expressed in lymph node, spleen, thymus and bone marrow. SLAMF8 may play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor. There are two isoforms of this protein, produced by alternative splicing.
Immunoglobulin superfamily DCC subclass member 1
immunoglobulin superfamily DCC subclass member 1
immunoglobulin superfamily, DCC subclass, member 1
DCC is a receptor for netrin 1, which is required for axon guidance. DCC is a transmembrane protein and a member of the immunoglobulin superfamily of cell adhesion molecules. It mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. The cytoplasmic tail of DCC interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.
a disintegrin and metalloproteinase domain 12 (meltrin alpha)
disintegrin and metalloproteinase domain-containing protein 12
From NCBI Gene: This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
This gene was formerly known as HIST1H2BF. From NCBI Gene: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. The protein has antibacterial and antifungal antimicrobial activity. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
This gene was formerly known as HIST1H2BI. From NCBI Gene: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. The protein has antibacterial and antifungal antimicrobial activity. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
From NCBI Gene: he protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
EGF containing fibulin-like extracellular matrix protein 1
From NCBI Gene: This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Mitochondrial Genome Deletion for Detection of Prostate Cancer
Mitochondrial deletion for detection of prostate cancer
The Prostate Core Mitomic Test is based upon a 3.4 kb mitochondrial genome deletion (3.4 mtdelta) that was identified through PCR analysis of frozen prostate cancer samples. In cancer research it has been found that deletions in mitochondrial DNA can correlate with cellular changes that indicate development of cancer. This deletion includes the terminal 22 bases of MT-ND4L, all of MT-ND4, 3 tRNAs (histidine, serine 2, and leucine 2), and all except the terminal 24 bases of MT-ND5.
Interleukin 6 (IL6) is a cytokine that is involved in inflammation and the maturation of B cells as well as induction of the acute phase response. In addition to inducing myeloma and plasmacytoma growth and nerve cell differentiation, it also plays an important role in the differentiation of B-cells into Ig-secreting cells involved in lymphocyte and monocyte differentiation. The IL6 protein is produced mainly at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The IL6 gene is involved in many inflammation-associated disease states, including diabetes mellitus, where it acts on insulin resistance, and systemic juvenile rheumatoid arthritis. IL6 is discharged into the bloodstream after muscle contraction.
tumor necrosis receptor-associated factor 4A
Cysteine-rich domain associated with RING and Traf domains protein 1
cysteine-rich domain associated with ring and TRAF domain
cysteine-rich domain associated with RING and Traf domains protein 1
TRAF4 is a member of the TNF receptor associated factor (TRAF) family. Members of the TRAF family are the major signal transducers for the TNF receptor (TNFR) superfamily and the interleukin-1 receptor/Toll-like receptor superfamily. TRAF4 is involved in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis.
follicle stimulating hormone, beta polypeptide
follicle-stimulating hormone beta subunit
The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Defects in FSHB are a cause of isolated follicle-stimulating hormone deficiency. Selective follicle-stimulating hormone deficiency is an uncommon cause of infertility, producing amenorrhea and hypogonadism in women and oligo or azoospermia with normal testosterone levels in normally virilised men. FSHB belongs to the glycoprotein hormones subunit beta family. There are two transcript variants from alternative splicing that each encode the same protein.
From NCBI Gene: The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
Monocyte chemotactic and activating factor
small inducible cytokine subfamily A (Cys-Cys), member 2
monocyte chemotactic and activating factor
small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)
From NCBI Gene: This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]
single-stranded DNA-binding protein, mitochondrial
single-stranded DNA binding protein 1, mitochondrial
SSBP1 is a housekeeping gene that is thought to be involved in mitochondrial DNA replication. SSBP1, or single-stranded DNA-binding protein binds to single stranded DNA. It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability.
small inducible cytokine subfamily A (Cys-Cys), member 27
CCL27 is a member of the CC cytokine family, and is involved in immunoregulatory and inflammatory processes. CC cytokines are characterized by two adjacent cysteines. CCL27 functions as a chemotactic factor that attracts skin-associated memory T-lymphocytes. CCL27 may also play a role in mediating homing of lymphocytes to cutaneous sites. CCL27 binds specifically to chemokine receptor 10 (CCR10).
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. MMP3 degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3.
Lokshin University of Pittsburgh Cancer Instititute
From NCBI Gene: Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
The glandular kallikreins are a distinct group of serine proteases with molecular masses of 25,000 to 40,000. Kallikreins are a subgroup of serine proteases having diverse physiological functions. hk11 is a possible multifunctional protease which efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Several human kallikrein genes have been isolated. Expressed in brain, skin and prostate. Isoform 1 is expressed preferentially in brain. Isoform 2 is expressed in prostate.
This gene was formerly known as HIST1H2BE. From NCBI Gene: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)
adenosine deaminase complexing protein 2
Adenosine deaminase complexing protein 2
From NCBI Gene: The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]
guanine nucleotide binding protein beta subunit 4
guanine nucleotide binding protein (G protein), beta polypeptide 4
guanine nucleotide-binding protein subunit beta-4
GNB4 is the beta subunit of a heterotrimeric guanine nucleotide-binding protein (G protein). These proteins also have alpha and gamma subunits. GNB4 and other beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Each type of subunit is encoded by families of related genes.
Spastic Paraplegia 30 (Autosomal Recessive)
Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse
From NCBI Entrez Gene: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
hydroxysteroid (17-beta) dehydrogenase 10
short chain type dehydrogenase/reductase XH98G2
3-hydroxy-2-methylbutyryl-CoA dehydrogenase
Short-chain type dehydrogenase/reductase XH98G2
endoplasmic reticulum-associated amyloid beta-peptide-binding protein
amyloid-beta peptide binding alcohol dehydrogenase
short chain dehydrogenase/reductase family 5C, member 1
hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II
Endoplasmic reticulum-associated amyloid beta-peptide-binding protein
mental retardation, X-linked, syndromic 10
short chain L-3-hydroxyacyl-CoA dehydrogenase type 2
HSD17B10, hydroxysteroid (17-beta) dehydrogenase 10, is a member of the short-chain dehydrogenase/reductase superfamily. HSD17B10 functions in mitochondrial tRNA maturation and catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein is thought to play a role in the development of Alzheimer's disease. There are several alternatively spliced transcript variants, of which only two have been fully sequenced.
tumor necrosis factor, alpha-induced protein 1
BTB/POZ domain-containing protein TNFAIP1
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation
Tumor necrosis factor, alpha-induced protein 1, endothelial
From NCBI Gene: This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]
differentially expressed in adenocarcinoma of the lung protein 1
erythrocyte membrane protein band 4.1-like 3
Differentially expressed in adenocarcinoma of the lung protein 1
EPB41L3 protein is a critical growth regulator in the pathogenesis of meningiomas. There are three isoforms of this protein, produced by alternative splicing.
GPR65, a member of the G-protein coupled receptor 1 family, is a receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids. GPR65 may have a role in activation-induced cell death or differentiation of T-cells. It is expressed in thymus, spleen, lymph nodes, small intestine, lung, placenta and peripheral blood leukocytes.
ENG, or endoglin, is a cell surface adhesion protein involved the regulation of angiogenesis. ENG is a major glycoprotein of the vascular endothelium and is also a component of the transforming growth factor beta receptor complex. ENG binds to the beta1 and beta3 peptides with high affinity. ENG may also be involved in preeclampsia and several types of cancer. There are several isoforms encoded by transcript variants.
Rho guanine nucleotide exchange factor (GEF) 16
rho guanine nucleotide exchange factor 16
ARHGEF16 is a guanine nucleotide exchange factor. Guanine nucleotide exchange factors regulate the activation of Rho-like GTPases. Guanidine exchange factors promote the GTP activation of Rho GTPase's by catalyzing the exchange of GDP for GTP.
tumor necrosis factor (ligand) family, member 10
tumor necrosis factor (ligand) superfamily, member 10
TNF-related apoptosis inducing ligand TRAIL
tumor necrosis factor ligand superfamily member 10
chemokine tumor necrosis factor ligand superfamily member 10
tumor necrosis factor apoptosis-inducing ligand splice variant delta
From NCBI Gene: The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
protein-glutamine gamma-glutamyltransferase 4
From NCBI Gene: Predicted to enable protein-glutamine gamma-glutamyltransferase activity. Predicted to be involved in peptide cross-linking. Predicted to act upstream of or within mating plug formation. Located in Golgi apparatus and collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2021]
EsoCheck is used to collect esophageal cells. The EsGuard DNA test is then used to detect Barrett's esophagus or esophageal adenocarcinoma by analyzing methylation on the VIM and CCNA1 genes. From Esoguard.com: With over 90% sensitivity and specificity at detecting BE and EAC, the EsoGuard esophageal DNA test allows detection of these conditions in a simple office-based procedure WITHOUT endoscopy. EsoGuard analyzes methylation at 31 sites on 2 genes. From https://www.luciddx.com/esocheck: EsoCheck is a cell collection device that is designed to collect cells of a targeted region of the esophagus without the need for endoscopy. The sampled cells can then be subjected to any commercially available diagnostic test.
Markowitz Case Western Reserve University
Chen 10-marker miRNA signature for non-small cell lung cancer
Chen 10 marker miRNA signature for non-small cell lung cancer
A panel of 10 serum miRNAs has been identified that were found to have significantly different expression levels in non-small cell lung cancer (NSCLC) serum samples compared with the control serum samples. This panel of miRNAs was able to distinguish NSCLC cases from controls with high sensitivity and specificity. The ten miRNAs are: miR-20a, miR-24, miR-25, miR-145, miR-152, miR-199a-5p, miR-221, miR-222, miR-223, miR-320.
Tumor-associated differentially expressed gene 14 protein
KLK8, a member of the kallikrein subgroup of serine proteases, is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Kallikreins have been implicated in carcinogenesis, and some have potential as novel cancer and other disease biomarkers. KLK8 is one of fifteen kallikrein subfamily members located in a cluster on chromosome 19. The four isoforms of KLK8 are a result of alternate splicing of the gene. The isoforms exhibit distinct patterns of expression that suggest roles in brain plasticity and ovarian cancer.
tax-responsive element-binding protein 5
Tax-responsive element-binding protein 5
XBP1 is a transcription factor involved in hepatocyte growth, differentiation of plasma cells, immunoglobulin secretion, and the unfolded protein response (UPR). XBP1 regulates MHC class II genes by binding to a promoter element referred to as an X box. XBP1 also plays a role in activating unfolded protein response (UPR) target genes via direct binding to the UPR element (UPRE) during endoplasmic reticulum stress. There is an XBP1 pseudogene on chromosome 5.
This gene was formerly known as HIST1H2BG. From NCBI Gene: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
KRT19, a member of the keratin family which exists as a heterotetramer of two type I and two type II keratins, is involved in the organization of myofibers. Together with KRT8, KRT19 helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. KRT18 is expressed in a defined zone of basal keratinocytes in the deep outer root sheath of hair follicles. It is also observed in sweat gland and mammary gland ductal and secretory cells, bile ducts, gastrointestinal tract, bladder urothelium, oral epithelia, esophagus, ectocervical epithelium (at protein level). It is expressed in epidermal basal cells and in nipple epidermis. It is also evident in a subset of vascular wall cells in both the veins and artery of human umbilical cord, and in umbilical cord vascular smooth muscle, as well as in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma in structures that contain dystrophin and spectrin.
small inducible cytokine subfamily A (Cys-Cys), member 28
chemokine (C-C motif) ligand 28 splice variant chi
CCL28 is a member of the small cytokine CC subfamily, and is involved in immunoregulatory and inflammatory processes. CC cytokines are characterized by two adjacent cysteines. CCL28 functions as a chemotactic factor for resting CD4 or CD8 T cells and eosinophils. CCL28 binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner.
cyclin D1 (PRAD1: parathyroid adenomatosis 1)
CCND1 is a member of the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. CCND1 forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition.
TSP is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. TSP can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. It has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis.
epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)
avian erythroblastic leukemia viral (v-erb-b) oncogene homolog
From NCBI Gene: The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. Multiple alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
coiled-coil domain-containing protein 102B
CCDC102B, or coiled-coil domain-containing protein 102B, has two isoforms produced by alternative splicing.
VCAM1, a single-pass type I membrane protein belonging to the Ig superfamily, is a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. It mediates leukocyte-endothelial cell adhesion and signal transduction. VCAM1 interacts with the beta-1 integrin VLA4 on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/VLA4 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation. VCAM1 may play a role in the development of artherosclerosis and rheumatoid arthritis. VCAM1 is expressed on inflamed vascular endothelium, as well as on macrophage-like and dendritic cell types in both normal and inflammed tissue.
From NCBI Gene: This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019]
RAB13 is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). RAB13 is thought to participate in polarized transport, in the assembly and/or the activity of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. There are several alternatively spliced transcript variants for this gene, and a pseudogene located on chromosome 12.
MAM and EGF domains-containing gene protein
From NCBI Gene: This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]
CA19-9 is a monoclonal antibody that was first discovered in the serum of patients with colon cancer. Since that time CA19-9 has been used as a tumor marker for a variety of cancers.
small nuclear ribonucleoprotein polypeptide A'
U2 small nuclear ribonucleoprotein polypeptide A'
SNRPA1 is a nuclear protein associated with sn-RNP U2. It helps the A' protein to bind stem loop IV of U2 snRNA. SNRPA1 has four LRR (leucine-rich) repeats and one LRRCT domain.
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
ubiquitin carboxyl-terminal hydrolase isozyme L1
PGP9.5, also called Ubiquitin-protein hydrolase (UCHL1), is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Oxidation of Met-1, Met-6, Met-12, Met-124 and Met-179 to methionine sulfoxide, and oxidation of Cys-220 to cysteine sulfonic acid have been observed in brains from Alzheimer disease (AD) and Parkinson disease (PD) patients. PGP9.5 has been proposed as a marker with a potential role in carcinogenesis.
Hanash Fred Hutchinson Cancer Research Center
hepatic flavin-containing monooxygenase 5
dimethylaniline monooxygenase [N-oxide-forming] 5
Hepatic flavin-containing monooxygenase 5
From NCBI Gene: Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Thyroid-stimulating hormone subunit beta
TSH, a secreted protein belonging to the glycoprotein hormones subunit beta family, is essential for the control of thyroid structure and metabolism. The four human glycoprotein hormones - chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH)- are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Congenital hypothyroidism is caused by mutation in the TSH gene.
From NCBI Gene: This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]
integrin, beta-like 1 (with EGF-like repeat domains)
Osteoblast-specific cysteine-rich protein
ten integrin EGF-like repeat domains protein
ten integrin EGF-like repeat domain-containing protein
Ten integrin EGF-like repeat domain-containing protein
osteoblast-specific cysteine-rich protein
ITGBL1, or integrin, beta-like 1 (with EGF-like repeat domains), is a member of the EGF-like protein family. It is a beta integrin-related protein containing integrin-like cysteine-rich repeats. Multiple transcript variants result from alternative splicing.
Serine protease M expressed on epithelial cell surface and released in ECM. Tumor cells treated with a neutralizing KLK6 antibody migrate less than control cells, suggesting a role in invasion and metastasis. Overexpressed in primary breast tumors but not expressed in metastatic tumors.
ESM1, a secreted protein containing multiple polyadenylation and mRNA instability signals, may have potent implications in lung endothelial cell-leukocyte interactions. It is expressed in lung, on the vascular capillary network within alveolar walls, and also at lower level in kidney. The expression of the ESM1 gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. Two transcript variants encoding different isoforms have been found for this gene.
ECM1 is an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. It is involved in endochondral bone formation as negative regulator of bone mineralization. EMC1 stimulates the proliferation of endothelial cells and promotes angiogenesis. It also inhibits MMP9 proteolytic activity. ECM1 is expressed in breast cancer tissues, however little or no expression observed in normal breast tissues. It is also expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis.
family with sequence similarity 83, member H
FAM83H is a member of the FAM83 family and plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). Lack of a recognizable signal peptide indicates that the protein functions within the cell. It is expressed in the tooth follicle.
BRCA1/BRCA2-containing complex, subunit 1
breast and ovarian cancer sususceptibility protein 1
protein phosphatase 1, regulatory subunit 53
breast cancer type 1 susceptibility protein
breast and ovarian cancer susceptibility protein 1
BRCA1 is a nuclear phosphoprotein that functions as a tumor suppressor. BRCA1 combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). BRCA1 associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers.
UPP1, or uridine phosphorylase 1, is a pyrimidine nucleoside phosphorylase. UPP1, in the presence of orthophosphate, catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. Pyrimidine nucleoside phosphorylases can add ribose or deoxyribose to pyrimidine bases to form nucleosides that can be incorporated into RNA or DNA.
variant Gaucher disease and variant metachromatic leukodystrophy
From NCBI Gene: This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
tumor necrosis factor receptor superfamily, member 6
tumor necrosis factor receptor superfamily member 6
Fas (TNF receptor superfamily, member 6)
FAS is a member of the TNF-receptor superfamily. The FAS protein is a receptor for TNFSF6/FASLG and has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform.
From UniProtKB/Swiss-Prot: Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration.
Vps20-associated 1 homolog (S. cerevisiae)
vacuolar protein sorting-associated protein VTA1 homolog
VTA1 (C6ORF55) is involved in activities of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes. VTA1 is thought to be a cofactor of VPS4A/B. VTA1 is involved in HIV-1 budding. It has been shown by similarity to be involved in the sorting and down-regulation of EGFR.
Serpin Peptidase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 1
Serine (Or Cysteine) Proteinase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 1
Endothelial plasminogen activator inhibitor
The SERPINE1 protein is a serine proteinase inhibitor (serpin) superfamily. SERPINE1 is the main inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), the activators of plasminogen and hence fibrinolysis. It is found in plasma and platelets and in endothelial, hepatoma and fibrosarcoma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
EP300, or E1A binding protein p300, functions as a histone acetyltransferase and regulates transcription via chromatin remodeling. EP300 is important in the processes of cell proliferation and differentiation, and also functions as acetyltransferase for nonhistone targets. EP300 mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF.
propionyl CoA carboxylase, alpha polypeptide
propionyl Coenzyme A carboxylase, alpha polypeptide
propionyl-CoA carboxylase alpha chain, mitochondrial
propanoyl-CoA:carbon dioxide ligase alpha subunit
Propanoyl-CoA:carbon dioxide ligase subunit alpha
PCCA, or propionyl CoA carboxylase, alpha polypeptide, is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. The beta subunit is PCCB. The enzyme deficiency propionic acidemia results from mutations in either PCCA or PCCB. Several isoforms for this gene have been identified, coded by multiple transcript variants.
platelet-derived growth factor alpha polypeptide
PDGFA, or platelet-derived growth factor alpha polypeptide, is a member of the platelet-derived growth factor family. PDGFA is a growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. There are four members of the PDGF family, characterized by a motif of eight cysteines. PDGFA exists as either a homodimer or a heterodimer with PDGFB (platelet-derived growth factor beta polypeptide).
RHOA is a member of the small GTPase superfamily. RHO family GTPases are involved in many basic cellular processes that influence cell proliferation, differentiation, motility, adhesion, survival, or secretion. RHOA regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers.
basal cell adhesion molecule (Lutheran blood group)
Lutheran blood group (Auberger b antigen included)
basal cell adhesion molecule (Lu and Au blood groups)
From NCBI Gene: This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
fibronectin type III domain containing 3A
fibronectin type-III domain-containing protein 3A
fibronectin type III domain containing 3
Fndc3a is a member of a three-gene family in mice. Mouse Fndc3a is composed of a proline-rich amino-terminus, nine fibronectin type-III domains, and a hydrophobic carboxy-terminus. By similarity, human FNDC3A is thought to mediate spermatid-Sertoli adhesion during spermatogenesis.
cytochrome c oxidase subunit VIIa heart/muscle isoform
Cytochrome c oxidase subunit VIIa-muscle
cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
cytochrome c oxidase subunit VIIa-muscle
cytochrome c oxidase subunit 7A1, mitochondrial
COX7A1, cytochrome c oxidase subunit VIIa polypeptide 1 (muscle), is one of the polypeptide chains of cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain. This polypeptide is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes.
suppression of tumorigenicity 14 (colon carcinoma)
Tumor-associated differentially-expressed gene 15 protein
suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin)
tumor associated differentially expressed gene 15 protein
From NCBI Gene: The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]
cancer/testis antigen family 1, member 6
The members of the MAGEA protein family display 50-80% sequence identity among their members. MAGEA proteins are thought to play a role in tumor transformation or aspects of tumor progression. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. Alternative splicing results in multiple transcript variants.
CSRP2 encodes a LIM domain protein. LIM domain proteins may be involved in regulatory processes important for development and cellular differentiation. CSRP2 has two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. CSRP2 is thought to play a role in the development of the embryonic vascular system.
Parkinson disease (autosomal recessive, early onset) 7
DJ-1, also known as PARK-7, belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. DJ-1 is highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart and is detected at slightly lower levels in placenta and brain.
From NCBI Gene: The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Pass New York University School of Medicine
WD protein associating with integrin cytoplasmic tails 1
EED is a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. EED is part of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. There are two known isoforms arising from two distinct transcript variants for this gene.
Vascular endothelial growth factor (VEGFA or VEGF) is a growth factor and signaling protein involved in the regulation of angiogenesis, vasculogenesis, and endothelial cell grown. It induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Three VEGFR isoforms have been identified in humans; VEGFR-1 (Flt-1), VEGFR-2 (KDR/Flk-1) and VEGFR-3 (Flt-4). VEGFR-2 mediates the majority of cellular responses to VEGF. VEGFR-1 is thought to modulate VEGFR-2 signaling or to act as a dummy/decoy receptor to sequester VEGF away from VEGFR-2.
Exhaled breath was collected and differences in concentration for more than 50 volatile organic compounds (VOCs) was assayed by various methods.
SCGB2A1, also known as MGB2 or mammaglobin B, encodes a small secreted protein from the secretoglobin family, part of the uterglobin superfamily. SCGB2A1 is normally expressed in the thymus, trachea, kidney, steroid responsive tissues (prostate, testis, uterus, breast and ovary) and salivary gland.
exportin, tRNA (nuclear export receptor for tRNAs)
XPOT, or exportin-T, belongs to the RAN-GTPase exportin family. This protein facilitates export of tRNA from the nucleus to the cytoplasm. XPOT shuttles between the nucleus and the cytoplasm, transporting the aminoacylated tRNAs out of the nucleus, and returning back for another round.
mitogen-activated protein kinase phosphatase 4
Mitogen-activated protein kinase phosphatase 4
serine/threonine specific protein phosphatase
DUSP9 is a member of the dual specificity protein phosphatase subfamily. DUSP9 is specific for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus.
Assay-MagPix instrument using the magnetic spectral beads
HEPC, also known as HAMP, is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure.
eph-related receptor tyrosine kinase ligand 7
EPH-related receptor tyrosine kinase ligand 7
EFNA5 is a cell surface-bound member of the ephrin gene family. Ephrins are proteins that function as ligands for the ephrin receptors (Eph receptors). Eph receptors are a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins.
From NCBI Gene: The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]
Pecot MALDI MS signature + clinical and imaging data
A serum proteomic signature of seven features identified by MALDI MS was previously identified (see "Yildiz MALDI MS signature for lung cancer"). The serum signature was associated with the diagnosis of lung cancer independently of gender, smoking status, smoking pack-years, and C-reactive protein levels. Here the signature is applied to cohorts presenting with one or more lung nodules discovered by clinical evaluation and chest CT.
polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)
DNA-directed RNA polymerases I, II, and III subunit RPABC5
DNA-directed RNA polymerase III subunit L
RNA polymerases I, II, and III subunit ABC5
polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa
POLR2L is the central component of RNA polymerase II. RNA polymerase II is the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit may be shared by the other two DNA-directed RNA polymerases, I and III. RNA polymerases, or Pols, are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is thought to be part of the core element with the central large cleft.
tumor necrosis factor receptor superfamily, member 21
From NCBI Gene: This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
8-Oxoguanine DNA Glycosylase, or OGG1, is a DNA repair enzyme that removes both 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. OGG1 has a beta-lyase activity that nicks DNA 3' to the lesion. There are two major groups of splice variants for this gene, classified by alternative splicing of the C-terminal region of the gene, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization.
small inducible cytokine subfamily A (Cys-Cys), member 5
regulated upon activation, normally T-expressed, and presumably secreted
From NCBI Gene: This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
latent transforming growth factor beta binding protein 2
Latent-transforming growth factor beta-binding protein 2
LTBP2, the largest member of the latent transforming growth factor (TGF)-beta binding protein family, possesses unique regions and is most similar to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. LTBP2 forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. It is expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.
MMP9 is a member of the matrix metalloproteinase (MMP) family. It is a secreted protein that may play an essential role in local proteolysis of the extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. MMP9 also plays a role in leukocyte migration. Murine studies suggest a role in tumor-associated tissue remodeling
toll/interleukin-1 receptor-like protein 4
Toll/interleukin-1 receptor-like protein 4
TLR2, or toll-like receptor 2, is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLR2 is involved in the innate immune response to bacterial lipoproteins and other microbial cell wall components. TLR2 also plays a role in NF-kappa-B activation, cytokine secretion and the inflammatory response.
There is increasing evidence that prolactin (PRL), a hormone/cytokine, plays a role in breast, prostate, and colorectal cancers via local production or accumulation. Elevated levels of serum PRL in ovarian and endometrial cancers have been reported, indicating a potential role for PRL in endometrial and ovarian carcinogenesis.
myosin VA (heavy polypeptide 12, myoxin)
The MYO5A gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. The MYO5A protein functions as a processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. MYO5A is also involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. Different isoforms, encoded by alternatively spliced transcript variants, have been reported.
frizzled 10, seven transmembrane spanning receptor
FZD10 is a member of the frizzled gene family. The frizzled gene family encodes 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins (WNT signaling proteins). The highest levels of expression for FZD10 are seen in the placenta and fetal kidney, followed by fetal lung and brain. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer.
This 80-gene biomarker panel is used to distinguish smokers with lung cancer from smokers without lung cancer. The biomarker panel had approximately 90% sensitivity for stage 1 cancer across all subjects. Adding cytopathology data gives 95% sensitivity and 95% negative predictive value. (7 of the 80 biomarker probesets had no annotated gene symbol associated with them.) List of genes in the panel: DMD, NELL2, FGF14, TMEM47, ANXA3, PLA2G4A, DNAJC12, SLC39A8, DEFB1, PPBP, C6, FCGR3A, IL8, SERPINA1, CXCL2, RGS1, DUSP6, TOB1, FOS, SOX9, CD55, CD55, SLC4A4, CD164, ATP6AP2, ARL6IP5, CCT2, UBXD2, RAB1A, TRAM1, TMED2, YWHAE, C1orf80, TPD52, ACTR2, CPNE3, PTK9, UBE2J1, FXR1, SPN, PPP2CA, AD7C-NTP, STARD7, KIAA0738, RPL35A, GTF2H3, ZNF611, LOC152719, PRR11, ZC3H7B, ZNF354A, UBE2D2, ZNF160, FBXW12, ALMS1, ATP8B1, BACH2, TSR1, HDGF2, FLJ14346, LOC653471, DCLRE1C, DUOX1, LOC153561, DKFZP434A0131, GLT28D1, SENP6, FTO, LMO4, CCDC81, COX5B, FTL, NUCKS1
From NCBI Gene: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011]
Monocyte-derived neutrophil-activating peptide
lymphocyte-derived neutrophil-activating factor
small inducible cytokine subfamily B, member 8
From NCBI Gene: The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020]
NACHT, Leucine Rich Repeat And PYD (Pyrin Domain) Containing 1
Caspase Recruitment Domain-Containing Protein 7
Death Effector Filament-Forming Ced-4-Like Apoptosis Protein
Nucleotide-Binding Domain And Caspase Recruitment Domain
Leucine Rich Repeat And Pyrin Domain Containing 1
Nucleotide-Binding Oligomerization Domain
NACHT, Leucine Rich Repeat And PYD Containing 1
NACHT, LRR And PYD Domains-Containing Protein 1
Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 1
From NCBI Gene: This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
alcohol dehydrogenase (class III), chi polypeptide
Glutathione-dependent formaldehyde dehydrogenase
glutathione-dependent formaldehyde dehydrogenase
S-(hydroxymethyl)glutathione dehydrogenase
alcohol dehydrogenase 5 (class III), chi polypeptide
From NCBI Gene: This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
WW, C2 and coiled-coil domain containing 1
From NCBI Gene: The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
The glandular kallikreins are a distinct group of serine proteases with molecular masses of 25,000 to 40,000. The glandular kallikrein gene family comprises 25 to 30 highly homologous genes that encode specific proteases involved in the processing of biologically active peptides (they cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin). Several human kallikrein genes have been isolated.
F37/esophageal cancer-related gene-coding leucine-zipper motif
F37/Esophageal cancer-related gene-coding leucine-zipper motif
leucine zipper putative tumor suppressor 1
leucine zipper, putative tumor suppressor 1
LZTS1 is a tumor suppressor protein that is widely expressed in normal tissues. It is involved in regulating cell growth and is also thought to interact with the active CDC2-cyclin B1 complex and contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer, and this gene is located on 8p22.
receptor-type tyrosine-protein phosphatase C
protein tyrosine phosphatase, receptor type, C
protein tyrosine phosphatase, receptor type, c polypeptide
PTPRC is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. PTPRC is required for T-cell activation through the antigen receptor. PTPRC contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and is classified as a receptor type PTP.
Bianchi 34-marker miRNA Signature for Lung Cancer
Bianchi 34 marker miRNA Signature for Lung Cancer
This signature was developed based on the detection of 34 microRNAs (miRNAs) from serum that could identify patients with early stage non-small cell lung carcinomas (NSCLCs) in a population of asymptomatic high-risk individuals with 80% accuracy. The signature could assign disease probability accurately either in asymptomatic or symptomatic patients, is able to distinguish between benign and malignant lesions, and to capture the onset of the malignant disease in individual patients over time.
Aberrant Vimentin DNA Methylation in Stool
The VIM gene encodes a member of the intermediate filament family. VIM proteins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. These intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton.
From Vermillion website: Overa, a second-generation Multivariate Index Assay (MIA2G) is an FDA-cleared blood test for women with a pelvic mass who are planned for surgery. Overa (MIA2G) maintains the high level of ovarian cancer detection, across rare subtypes and including early stage cancers, afforded by OVA1 (MIA). However, Overa (MIA2G) incorporates different markers and a refined algorithm in order to improve the balance between ovarian cancer detection and healthcare efficiency. Overa (MIA2G) represents a significant improvement in positive predictive value, overall accuracy and a reduction in false positives and unnecessary referrals. https://vermillion.com/our-products/ova1-ova1plus/
metallophosphoesterase domain containing 2
Metallophosphoesterase domain-containing protein 2
metallophosphoesterase domain-containing protein 2
From NCBI Gene: This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
B-cell scaffold protein with ankyrin repeats 1
B-cell scaffold protein with ankyrin repeats
BANK1 is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. It also promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2. There are several transcript variants resulting from alternative splicing.
Boeri miRNA signature of risk for lung cancer
DiGeorge syndrome critical region gene 6
DiGeorge syndrome critical region protein 6
DGCR6 is located on chromosome 22q11.21. Microdeletions in this region are associated with DiGeorge syndrome, and more widely, the CATCH 22 syndrome. DGCR6, also known as DiGeorge syndrome critical region 6, is thought to be involved in DiGeorge syndrome pathology and in schizophrenia. Another function attributed to this gene is a role in neural crest cell migration into the third and fourth pharyngeal pouches. The DGCR6 protein shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin.
prostate-specific membrane antigen-like protein
putative N-acetylated-alpha-linked acidic dipeptidase
N-acetylated-alpha-linked-acidic dipeptidase
Prostate-specific membrane antigen-like protein
FOLH1B, or PSMAL, is a cytoplasmic protein. It has been found in the kidney and liver, and has not been detected in the prostate. GO annotations related to this gene include metallopeptidase activity and dipeptidase activity.
PEX11B, or peroxisomal biogenesis factor 11 beta, is involved in peroxisomal proliferation and interacts with PEX19. PEX11B is located in the peroxisomal membrane and is thought to regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane.
The interleukin 2 receptor exists in three forms which differ in their ability to bind interleukin 2. The low affinity form of the receptor is a monomer of IL2RA, the alpha subunit. The alpha/beta subunit heterodimer, formed by IL2RA and IL2RB, is an intermediate affinity form. The alpha/beta/gamma heterotrimer formed by IL2RA, IL2RB, and IL2RG is the high affinity form. IL2RA is normally an integral membrane protein, although soluble IL2RA has been isolated. There are known alternately-spliced versions of IL2RA mRNAs, but their functions are unknown. Mutations in the IL2RA gene are associated with diabetes mellitus insulin-dependent type 10 (IDDM10). Complications of IDDM10 can adversely affect the eyes, kidneys, nerves, and blood vessels.
protein-tyrosine phosphatase mitochondrial 1
protein tyrosine phosphatase, mitochondrial 1
NB4 apoptosis/differentiation related protein
PTPMT1 is a lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle.
Renal Cell Carcinoma-Associated Antigen G250
From NCBI Gene: Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
From NCBI Gene: Predicted to be involved in several processes, including phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
congenital dyserythropoietic anemia, type II
SEC23B is a member of the SEC23B/SEC24B family. SEC23B is a component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. By similarity, it has been shown that COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.
DnaJ (Hsp40) homolog, subfamily C, member 7
DNAJC7 is a member of the DNAJ heat shock protein 40 family. This family is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. DNAJC7 functions as a co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. There are pseudogenes of this gene on chromosomes 1 and 6. Multiple transcript variants of DNAJC7 exist from alternate splicing.
PTCHD1 is a membrane protein with a patched domain that is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in the PTCHD1 gene, which is located on the X chromosome, are associated with intellectual disability and autism spectrum disorder.
From NCBI Gene: This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
3' End Of The Mid1 Gene, Localized 68 Kb Upstream The Humanzeta Globin Gene On 16p
CRA36.1 (3-Methyl-Adenine DNA Glycosylase)
MPG is a DNA repair enzyme that repairs hypoxanthine, which is formed by spontaneous or oxidative deamination of adenine. MPG also repairs secondary oxidative lesions such as 1,N6-ethenoadenine alkylated bases, and 3-methyladenine and 7-methylguanine.
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
solute carrier family 11 (sodium/phosphate symporters), member 1
natural resistance-associated macrophage protein 1
SLC11A1 is a membrane associated divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. SLC11A1 is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family. Mutations in the SLC11A1 gene are involved in susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Several alternatively spliced variants have been identified.
receptor-type tyrosine-protein phosphatase epsilon
protein tyrosine phosphatase, receptor type, E
protein tyrosine phosphatase, receptor type, epsilon polypeptide
PTPRE is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. The PTPRE gene encodes two isoforms, one of which is a receptor-type PTP, and the other which is not a receptor-type PTP. Both isoforms act as negative regulators of FceRI-mediated signal transduction leading to cytokine production and degranulation.
CPX chromosomal region candidate gene 1 protein
CPXCR1 is located in a region on the X chromosome that has been associated with X-linked cleft palate (CPX) disorder. CPXCR1 contains a motif found in several zinc finger proteins. Several alternatively spliced transcripts have been isolated, all encoding the same protein.
v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
Tyrosine kinase-type cell surface receptor HER2
v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)
From NCBI Gene: This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
melanoma differentiation associated protein 6
Melanoma differentiation-associated protein 6
From NCBI Gene: This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
solute carrier family 30 (zinc transporter), member 6
SLC30A6 is a zinc-efflux transporter which has been shown by similarity to be involved in distributing the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment. SLC30A6, a member of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, permits cellular efflux of zinc.
Inter-alpha-trypsin inhibitor heavy chain H4
Inter-alpha-trypsin inhibitor family heavy chain-related protein
Plasma kallikrein sensitive glycoprotein 120
The inter-alpha-trypsin inhibitors (ITI) are a family of plasma protease inhibitors, assembled from a light chain - bikunin, encoded by AMBP - and five homologous heavy chains (encoded by ITIH1, ITIH2, ITIH3, ITIH4, and ITIH5), contributing to extracellular matrix stability by covalent linkage to hyaluronan. ITIH4 is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of the ITIH4 gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene.
SLA, or Src-like-adaptor, is an adaptor protein involved in negative regulation of T-cell receptor (TCR) signaling and regulation of receptor tyrosine kinase signaling by direct association. SLA is also involved in the negative regulation of positive selection and mitosis of T-cells.
Growth hormone, a secreted protein which exists as a monomer, dimer, trimer, tetramer and pentamer and is disulfide-linked or non-covalently associated in homopolymeric and heteropolymeric combinations, plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues. GH belongs to the somatotropin/prolactin family.
epithelial stromal interaction 1 (breast)
epithelial stromal interaction protein 1
epithelial-stromal interaction protein 1
EPSTI1 is highly expressed in placenta, small intestine, spleen, kidney, thymus, liver, salivary gland and testes. There are three isoforms of this protein, produced by alternative splicing.
Eukaryotic initiation factor 5A isoform 1
eukaryotic translation initiation factor 5A
eukaryotic translation initiation factor 5A-1
From UniProtKB/Swiss-Prot: mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF-alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts.
erythrocyte band 7 integral membrane protein
erythrocyte membrane protein band 7.2 (stomatin)
STOM, or stomatin, is an integral membrane protein located in the cell membrane of red blood cells and other cell types, where it is thought to regulate ion channels and transporters. Multiple transcript variants are produced by alternative splicing.
Chondroitin sulfate proteoglycan core protein 2
From NCBI Gene: This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Zhang Johns Hopkins University School of Medicine
NADH-ubiquinone oxidoreductase 42 kDa subunit
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
NDUFA10 is an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain.
CD1A is a transmembrane glycoprotein that is structurally related to the major histocompatibility complex (MHC) proteins and forms heterodimers with beta-2-microglobulin. CD1A functions as an antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.
G protein coupled receptor for UDP-glucose
purinergic receptor P2Y, G-protein coupled, 14
From NCBI Gene: The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Hyaluronan and proteoglycan link protein 1 [Precursor]
This widely expressed protein stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
NOS1, or nitric oxide synthase 1 (neuronal), along with inducible nitric oxide synthase (NOS2) and endothelial nitric oxide synthase (NOS3), catalyze the generation of nitric oxide and L-citrulline from L-arginine and molecular oxygen. Nitric oxide is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter. NOS1 also displays antimicrobial and antitumoral activities.
G patch domain and KOW motifs-containing protein
GPKOW is a a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. GPKOW interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome.
ARP3 actin-related protein 3 homolog (yeast)
ARP3 (actin-related protein 3, yeast) homolog
From NCBI Gene: The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
mitochondrial import stimulation factor L subunit
From NCBI Gene: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
Mercola 131 probe-set classifer panel for prostate cancer
From PMID 21459804: A stroma-specific classifier for nearby tumor was constructed on the basis of 114 candidate genes. The resulting significantly differentially expressed genes for the comparison of normal prostate biopsies to tumor-bearing prostate tissue were used for development of the diagnostic classifier.
chitinase 3-like 1 (cartilage glycoprotein-39)
CHI3L1, also known as chitinase, a secreted protein, is a carbohydrate-binding lectin with a preference for chitin. It may play a role in defense against pathogens, or in tissue remodeling. It may also play an important role in the capacity of cells to respond to and cope with changes in their environment. CHI3L1 is present in activated macrophages, articular chondrocytes, synovial cells as well as in liver. It is undetectable in muscle tissues, lung, pancreas, mononuclear cells, or fibroblasts.
From NCBI Gene: This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
Soluble mesothelin-related protein (SMRP) is related to the mesothelin family of molecules. It is overexpressed in ovarian cancer, malignant pleural mesothelioma (MPM), and certain other cancers. One hypothesis for the origin of SMRP is that this mesothelin-like molecule was released from tumor cells into culture supernatants, sera, and malignant effusions from certain tumors. Another hypothesis is that SMRP is actually a proteolytically cleaved fragment of membrane-bound mesothelin. Currently SMRP is considered to be an isoform of mesothelin (MSLN). UniprotKB/SwissProt lists isoform 3 of human mesothelin (identifier Q13421-2) as SMRP.
protein tyrosine phosphatase, non-receptor type 11
tyrosine-protein phosphatase non-receptor type 11
PTPN11 is a member of the protein tyrosine phosphatase (PTP) family. PTP family members are a group of enzymes that catalyze the removal of phosphate groups from tyrosine residues by the hydrolysis of phosphoric acid monoesters. The activity of PTPs opposite that of kinases and phosphorylases and therefore PTPs play an integral role in many signal transduction pathways. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. PTPN11 is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration.
testis-specific serine/threonine-protein kinase 3
testis-specific serine/threonine kinase 22C
serine/threonine kinase 22C (spermiogenesis associated)
TSSK3 is a testis-specific kinase that is thought to be involved in either germ cell differentiation or mature sperm function.
TSPO is a conserved protein found at the outer mitochondrial membrane. TSPO interacts with some benzodiazepines and isoquinoline carboxamides and has different affinities than its endogenous counterpart. TSPO is also involved in the transport of porphyrins and heme.
Neuronal adaptin-like protein, beta-subunit
Neuron-specific vesicle coat protein beta-NAP
adapter-related protein complex 3 subunit beta-2
adaptor protein complex AP-3 subunit beta-2
adaptor-related protein complex 3, beta 2 subunit
Clathrin assembly protein complex 3 beta-2 large chain
Adaptor protein complex AP-3 subunit beta-2
neuron-specific vesicle coat protein beta-NAP
clathrin assembly protein complex 3 beta-2 large chain
Adapter-related protein complex 3 subunit beta-2
From NCBI Gene: Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
6-Phosphogluconate Dehydrogenase, Decarboxylating
From NCBI Gene: 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Leptin (LEP) is secreted by white adipocytes and plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. Leptin has also been implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing and the immune system. Leptin has several endocrine functions and is also involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in the leptin gene and/or its regulatory regions cause severe obesity and morbid obesity with hypogonadism. The leptin gene has also been linked to type 2 diabetes mellitus development.
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
very late activation protein, beta polypeptide
ITGB1 is a beta subunit of the heterodimeric integrin protein. Integrins are ubiquitously expressed adhesion molecules composed of alpha and beta subunits. In mammals, 18 alpha and 8 beta subunits have been identified. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. Several protein isoforms have been identifed, arising from alternatively spliced transcript variants.
zinc finger protein, C3H type, 36-like 1
zinc finger protein 36, C3H1 type-like 1
ZFP36L1 is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The ZFP36L1 gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. ZFP36L1 contains a putative zinc finger domain with a repeating cys-his motif. ZFP36L1 is believed to be a nuclear transcription factor most likely functioning in regulating the response to growth factors. Different isoforms encoded by alternatively spliced transcript variants have been isolated.
E74-like factor 2 (ets domain transcription factor)
ELF2 is a nuclear protein that is conserved across several species. Multiple isoforms have been identified. Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter, while isoform 2 is thought to function in repression of RUNX1-mediated transactivation.
Spira 80-marker panel plus clinical factors
Spira 80 marker panel plus clinical factors
This clinicogenomic model incorporates the gene expression pattern of histologcially normal large airway epithelial cells collected at time of bronchoscopy (see 'Spira 80-marker panel for lung cancer') with clinical parameters about lung cancer risk.
signal recognition particle 54 kDa protein
SRP54, or signal recognition particle 54kDa, contains a 7S RNA molecule of 300 nucleotides and six protein subunits. SRP54 binds to the signal sequence of presecretory proteins as they emerge from the ribosomes and transfers them to a translocating chain-associating membrane protein.
RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking. RAB24 may be involved in autophagy-related processes.
growth arrest and DNA-damage-inducible, beta
Myeloid differentiation primary response protein MyD118
Negative growth regulatory protein MyD118
myeloid differentiation primary response protein MyD118
growth arrest and DNA damage-inducible protein GADD45 beta
negative growth regulatory protein MyD118
From NCBI Gene: This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]
free prostate-specific antigen (PSA) isoform
ProPSA (-2), or [-2]proPSA, is a PSA isoform which has a leader peptide (-2) amino acids at its N terminal region and does not interact with ACT or alpha-2-macroglobulin or spermidine and therefore is detected as a separate isoform. ProPSA is produced primarily in the peripheral zone of the prostate gland and therefore is very useful in distinguishing between prostate cancer patients with PSA range of 2-10, from those who have BPH. Percent proPSA is the ratio of proPSA to free PSA. In July 2012 the FDA approved an assay measuring levels of [-2]proPSA for monitoring and diagnostic purposes.
RGS5 is a member of the regulators of G protein signaling (RGS) family, which are signal transduction molecules that are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. RGS5 has been found to be involved in tumor angiogenesis and to antagonize the angiogenic effect of VEGF. Multiple alternatively spliced transcript variants have been found.
From NCBI Gene: This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
lectin galactoside-binding soluble 3-binding protein
lectin, galactoside-binding, soluble, 3 binding protein
Lectin galactoside-binding soluble 3-binding protein
From NCBI Gene: he galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]
v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
Tyrosine kinase-type cell surface receptor HER3
lethal congenital contracture syndrome 2
tyrosine kinase-type cell surface receptor HER3
From NCBI Gene: This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
iron-responsive element-binding protein 1
iron-responsive element binding protein 1
Iron-responsive element-binding protein 1
From NCBI Gene: The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]
interstitial cell stimulating hormone, beta chain
The pituitary glycoprotein hormone family includes follicle stimulating hormone (FSH), luteinizing hormone (LH), chorionic gonadotropin (CG), and thyroid-stimulating hormone (TSH). All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. LHB, the beta subunit of luteinizing hormone, confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism.
STOML2, also known as SLP-2 or stomatin-like 2, is a mitochondrial protein that is thought to regulate the biogenesis and the activity of mitochondria, and through this regulation play a role in cell activities such as cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress.
YEATS4 has high sequence similarity to human MLLT1, and yeast and human MLLT3 proteins, both transcription factors, and is therefore hypothesized to be a transcription factor itself. YEATS4 is thought to be required for RNA transcription. YEATS4 is also a component of the NuA4 histone acetyltransferase (HAT) complex.
solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16
mitochondrial solute carrier protein homolog
Mitochondrial solute carrier protein homolog
SLC25A16 is a member of the mitochondrial carrier family and contains three tandemly repeated mitochondrial carrier protein domains. The SLC26A16 protein is found in the inner membrane of the mitochondria where it is necessary for the accumulation of coenzyme A in the mitochondrial matrix. SLC25A16 also facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. The SLC25A16 gene is thought to be involved in Graves' disease.
sel-1 suppressor of lin-12-like 3 (C. elegans)
From NCBI Gene: Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2021]
From NCBI Gene: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)
From NCBI Gene: This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]
MYCBP, or MYC binding protein, or C-MYC binding protein, binds to the N-terminus of the oncogenic protein MYC, also known as C-MYC, enhancing the ability of MYC to activate E box-dependent transcription. MYCBP is normally found in the cytoplasm, but it moves to the nucleus during the S phase of the cell cycle and associates with MYC.
Mercola 15-gene classifier panel for prostate cancer
From PMID 22870216: A 15-gene classifier. The overall accuracy was 87% when the classifier was tested on 47 independent test samples. Pathway analysis and Gene Ontology studies indicated these 15 genes are significantly enriched for genes that are involved in apoptosis-related processes. These studies supported the possibility that stroma is a practical basis of risk assessment.
From NCBI Gene: This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]
matrix metalloproteinase 7 (matrilysin, uterine)
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3.
matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
MMP2 is a member of the matrix metalloproteinase (MMP) family and is involved in many functions, such as remodeling of the vasculature, angiogenesis, tissue repair and remodeling, tumor invasion, inflammation, atherosclerotic plaque rupture, reproduction and embryonic development, as well as in disease processes such as arthritis and metastasis. In addition to degrading extracellular matrix proteins, MMP2 can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction and appears to have a role in myocardial cell death pathways. MMPs are generally secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The MMP2 protein degrades gelatin type I and collagen types IV, V, VII, and X. MMP2 gene mutations have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. There are two known isoforms of this gene, encoded by two transcript variants.
autocrine motility factor receptor, E3 ubiquitin protein ligase
Autocrine motility factor receptor, isoform 2
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1
ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1
ATP6V1G1 is a subunit of vacuolar ATPase (V-ATPase), a multisubunit enzyme. V-ATPase is an enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. This acidification process is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site.
From NCBI Entrez Gene: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. [provided by RefSeq, Jul 2008]
insulin-like growth factor 2 (somatomedin A)
IGF2 is a member of the insulin family of polypeptide growth factors that is involved in development and growth. The IGF2 gene is an imprinted gene and is expressed only from the paternally inherited allele. It is a candidate gene for eating disorders. There is a read-through, INS-IGF2, which aligns to this gene at the 3' region and to the upstream INS gene at the 5' region. Alternatively spliced transcript variants, encoding either the same or different isoform, have been found for this gene. IGF2 is influenced by placental lactogen and may play a role in fetal development.
Detection of genetic mutations associated with pancreatic and ovarian cancer. 2019 FDA break through device. Commercial partner is Thrive Earlier Detection Corp. From https://thrivedetect.com/cancerseek/: CancerSEEK is a blood test (also called a liquid biopsy) designed to detect multiple types of cancer at the earliest stages possible, before noticeable symptoms occur.
Hanash The University of Texas MD Anderson Cancer Center
From Entrez Gene: The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2011)
A combination of 22 breath volatile organic compounds (VOCs), predominantly alkanes, alkane derivatives, and benzene derivatives, that can discriminate between patients with and without lung cancer, regardless of stage (all p<0.0003).
DEFB1 is a member of the defensin family of microbicidal and cytotoxic peptides made by neutrophils. DEFB1 is an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. DEFB1 is thought to be involved in the pathogenesis of cystic fibrosis.
A 29-gene peripheral blood gene expression signature that separates patients with non-small cell lung cancer (NSCLC) tumors and patient controls with 86% accuracy (91% sensitivity, 80% specificity). Subjects were primarily smokers and former smokers. The 29 genes, minus one that did not match a gene symbol in the naming database: RSF1, DYRK2, YY1, C19orf12, THEM2, TRIO, MYADM, BAIAP2, ROGDI, DNAJB14, BRE, TMEM41A, C9orf64, FAM110A, PCNXL2, REST, C19orf62, C13orf27, ASCC3, SLC1A5, PTPLAD1, MRE11A, GTPBP10, SERPINI2, CREB1, CCDC53, USP48, ZSCAN2
required for meiotic nuclear division 5 homolog A (S. cerevisiae)
From NCBI Gene: Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Proto-Oncogene Tyrosine-Protein Kinase YES
V-Yes-1 Yamaguchi Sarcoma Viral Oncogene Homolog 1
YES1, also known as YES, is a non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. It is the cellular homolog of the Yamaguchi sarcoma virus oncogene and belongs to the src family of proteins. YES1 is involved in many phosphorylation reactions, including a role in cell cycle progression by phosphorylating the cyclin-dependent kinase 4/CDK4 thus regulating the G1 phase. Also involved in G2/M progression and cytokinesis.
Somalogic 12-marker panel for lung cancer
Somalogic 12 marker panel for lung cancer
From PMID 21170350: The sensitivity and specificity of our 12-biomarker panel improves upon published protein and gene expression panels. The 12-protein panel consists of cadherin-1 (CDH1), CD30 ligand (TNFSF8), endostatin, HSP90a, LRIG3, MIP-4 (CCL18), pleiotrophin, PRKCI, RGM-C (HFE2), SCF-sR (KIT), sL-selectin (SELL), and YES. The panel discriminates NSCLC from controls with 91% sensitivity and 84% specificity in cross-validated training and 89% sensitivity and 83% specificity in a separate verification set, with similar performance for early and late stage NSCLC.
CYCS, or cytochrome C, is an electron carrier protein that is an important part of the electron transport chain in mitochondria. The cytochrome C protein is a small heme protein that associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. Cytochrome C also plays a role in apoptosis.
Rahman 9-marker MALDI MS panel for Lung Cancer
Rahman 9 marker MALDI MS panel for Lung Cancer
This panel was derived from the proteomic analysis of bronchial lesions that could predict the diagnosis of lung cancer. Nine matrix-assisted laser desorption ionization mass spectrometry (MALDI MS) mass to charge ratio features were selected to build a prediction model diagnostic of lung cancer. One signature was not able to be associated with a particular protein. The remaining eight signatures are derived from: Thymosin beta-4 (TMSB4X), Macrophage migration inhibitory factor (MIF), Des-ubiquitin (Ubiquitin-Gly-Gly), Ubiquitin, Acyl-coA binding protein (ACBP, also known as DBI), Cystatin A (CSTA), and Cytochrome c.
Chinnaiyan 7-marker panel for prostate cancer
Chinnaiyan 7 marker panel for prostate cancer
Chinnaiyan (Laxman) 7-marker panel for prostate cancer
Chinnaiyan (Laxman) 7 marker panel for prostate cancer
This 7-marker multiplex panel of urine transcripts outperforms PCA3 transcript alone for the detection of prostate cancer. The panel consists of PCA3, AMACR, ERG, GP73 (GOLPH2), SPINK1, TFF3, and TMPRSS2:ERG fusion.
prostate cancer antigen 3 (non-protein coding)
prostate cancer associated transcript 3 (non-protein coding)
The prostate cancer antigen 3 (PCA3) gene is a highly specific biomarker upregulated in prostate cancer. Because there is no extensive open reading frame, the gene is thought to express a noncoding RNA. The FDA has approved an assay for prostate cancer that uses the ratio of PCA3 RNA to PSA RNA in urine. The assay is used to help physicians determine the need for repeat prostate biopsies in men 50 years of age or older who have had a previous negative biopsy. When used in conjunction with other clinical information, the use of this test can reduce the need for unnecessary prostate biopsies.
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. GP73 is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of the GP73 gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. Kladeny, RD. et al. 2000, found significant up-regulation of GOLPH2 expression in human hepatocyte cells infected with a recombinant adenovirus. EDRN investigator Block, TM et al. 2005, found that GP73 over-expression in serum correlate with liver cancer in woodchucks and humans. Chinnayian's lab reported that GP73 transcript was over-expressed in prostate cancer patients urine sediment (Laxman B. et al. 2008).
AMACR, a racemase, is an enzyme that interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from the gene locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Frequent overexpression of AMACR has been detected in prostate cancer tumors.
TMPRSS2:ERG gene fusions are a common genetic event in prostate cancer. These fusions are specific for prostate cancer and have also been observed in precursor lesions. Since TMPRSS2:ERG fusions are not seen in every prostate cancer, their utility is in assays combined with other biomarkers, such as PCA3.
Serine Peptidase Inhibitor, Kazal Type 1
SPINK1 is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. Its physiological function is to prevent the trypsin-catalyzed premature activation of zymogens within the pancreas. Mutations in SPINK1 are associated with hereditary pancreatitis and tropical calcific pancreatitis.
Trefoil Factor 3, HITF, Human Intestinal Trefoil Factor11
TFF3 is a member of the trefoil factor family. The trefoil factors are secreted peptides produced by normal intestinal mucosa, characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides.
Transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid, is a carrier protein that transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. TT consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, and carpal tunnel syndrome.
The OVA1 diagnostic test is comprised of five biomarkers: CA125, transthyretin (prealbumin), apolipprotein A1 (Apo A-1), beta-2 microglobulin, and transferrin. OVA1 is an In Vitro Diagnostic Multivariate Index Assay (IVDMIA) of Proteomic Biomarkers test that analyzes the serum levels of these five proteomic biomarkers. OVA1 is the first FDA approved test for assessing ovarian cancer risk in women previously diagnosed with an ovarian mass, and already scheduled for surgery. The OVA1 algorithm combines the results of these levels with information on the menopause status of the patient to classify the patient into a low- or high-risk group. The results of the OVA1 test can help determine patients needing referral to a gynecologic oncologist for their surgery.
From NCBI Entrez Gene: This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
A potential autoantibody profile was developed to screen for non-small cell lung cancer. 212 immunogenic phage-expressed proteins were statistically ranked for their individual reactivity with 23 stage I cancer patient and 23 risk-matched control samples. Measurements of the five most predictive antibody markers in 46 cases and controls were combined. While the identity of these phage-expressed proteins is not critical for use in a diagnostic assay, the identities were determined through a nucleotide search of GenBank. Markers are: paxillin, SEC 15L2, BAC clone RP11-499F19, XRCC5, and MALAT1.
V-set domain containing T cell activation inhibitor 1
Highly glycosylated sialomucin; expressed on immune cells. Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation. Overexpressed in breast, ovarian, endometrial, renal cell (RCC) and non-small-cell lung cancers (NSCLC). Belongs to the B7 family of costimulatory proteins.
Cramer 5-marker panel for ovarian cancer
Cramer 5 marker panel for ovarian cancer
The PLCO phase III specimens (test half) revealed marker panels produced only marginal improvement over CA 125 alone and, in some case, worse performance. Besides searching for new markers, some ways to improve detection might include: 1) Add epidemiologic variables, and 2) Add in prior markers values.
B2M, a secreted protein belonging to the beta-2-microglobulin family, is a component of the class I major histocompatibility complex (MHC) on the surface of nearly all nucleated cells and involved in the presentation of peptide antigens to the immune system. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia. B2M is detected in serum and urine.
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
mast/stem cell growth factor receptor Kit
proto-oncogene tyrosine-protein kinase Kit
SCF-sR, also known as KIT, is the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. Human KIT is a tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KIT is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene.
Massion 4-marker FISH panel for lung cancer
Massion 4 marker FISH panel for lung cancer
The combination of these 4 probes, TP63, MYC, CEP3, and CEP6, offered a sensitivity of 82% for lung cancer and a specificity of 58%. These results indicate that specific cytogenetic alterations present in preinvasive lung lesions are closely associated with the diagnosis of lung cancer and may therefore have value in assessing lung cancer risk.
v-myc myelocytomatosis viral oncogene homolog (avian)
v-myc avian myelocytomatosis viral oncogene homolog
Class E basic helix-loop-helix protein 39
avian myelocytomatosis viral oncogene homolog
myc-related translation/localization regulatory factor
The oncogenic protein MYC, previously known as c-MYC, is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It participates in the regulation of gene transcription of specific target genes. MYC binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Mutations, overexpression, rearrangement and translocation of the MYC gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. Evidence shows that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini.
Massion Vanderbilt University Medical Center
The tachykinin gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These active peptides are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Multiple transcript variants encoding different isoforms have been found for this gene.
Meltzer 8-marker panel for Esophageal Adenocarcinoma
Eight methylation biomarkers - p16, RUNX3, HPP1 (HGNC name TMEFF2), NELL1, TAC1, SST, AKAP12 and CDH13 - were tested in a restrospective multicenter double-blinded validation study for their accuracy in predicting neoplastic progression in Barretts Esophagus. Hypermethylation of p16, RUNX3 and HPP1 has been show to occur in early Barretts Esophagus-related neoplastic progression and predicts progression risk. Several of the panel (NELL1, TAC1, SST, AKAP12 and CDH13) were also shown to be methylated early and often in Barretts Esophagus-related neoplastic progression.
AKAP12 is a member of the A-kinase anchor protein (AKAP) family, a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. AKAP12 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. AKAP12 is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
Wu 6-marker phage peptide panel for Lung Cancer
Wu 6 marker phage peptide panel for Lung Cancer
The six-phage peptide detector stands out as a promising diagnostic biomarker for NSCLC. The peptide panel could be used to diagnose non-small cell lung cancer and to differentiate between non-small cell lung cancer and chronic obstructive pulmonary diseases. One of the six phage peptides shows 100% homology to olfactomedin 1. (Clin Cancer Res. 2010 Jul 15;16(14):3760-8. doi: 10.1158/1078-0432.CCR-10-0193) The other five peptides were homologous to proteins in a blastp search, but the homology was not high enough to positively identify the peptides.
Neuronal Olfactomedin-Related ER Localized Protein
Olfactomedin Related ER Localized Protein
From NCBI Entrez Gene: This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
tumor necrosis factor (ligand) superfamily, member 8
tumor necrosis factor ligand superfamily member 8
TNFSF8, also known as CD30 ligand, is a cytokine belonging to the tumor necrosis factor (TNF) ligand family. TNFSF8 binds to TNFRSF8/CD30, a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. TNFSF8 has been shown to induce proliferation of T-cells. It also enhances cell proliferation of some lymphoma cell lines, and induces cell death and reduces cell proliferation of other lymphoma cell lines. There are two different isoforms encoded by two transcript variants.
Cancer/Testis Antigen Family 4, Member 7
GAGE7 is a member of a family of genes that code for an antigenic peptide, YRPRPRRY. These genes are thought to be expressed in a variety of tumors but not in normal tissues, except for the testis.
The TAA signature is a diagnostic array of five markers capable of distinguishing patients with non-small cell lung cancer (NSCLC) from normal control subjects. The diagnostic array was developed by enriching and screening phage-expressed tumor-associated proteins, and using these in a fluorescent protein microarray to identify and measure multiple non-small cell lung cancer-associated antibodies and show how simultaneous measurements can be combined into a single diagnostic assay. Although the identity of the phage-expressed proteins is not critical for use in a diagnostic assay, the sequences were compared with the GenBank database to obtain possible identity. The five proteins in the final diagnostic array are GAGE7, BAC clone RP11-499F19, SEC15L2, PMS2P7 (PMS2L15), and EEF1A.
From NCBI Gene: This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]
From lynxdx.com: MyProstateScore 2.0 (MPS2) is a non invasive, genetically data-driven prostate cancer screening solution that provides highly accurate, stratified risk assessment insights to guide clinical decisions and improve your patients’ experience. The MPS2 algorithm has been developed to optimize accuracy. For biopsy naïve patients, MPS2 is a standalone biomarker test. For patients with a prior negative biopsy, relevant clinical factors are included in the algorithm. MPS2 is a urine test designed to predict the presence of clinically significant prostate cancer (Grade Group ≥2 or Gleason score ≥7) by analyzing a comprehensive array of 18 unique gene transcripts. Among the transcripts, the test’s foundation is the novel gene fusion, T2:ERG.
laminin receptor 1 (67kD, ribosomal protein SA)
Multidrug resistance-associated protein MGr1-Ag
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. The amino acid sequence of laminin receptor 1 is highly through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Cell-adhesive protein LAMR1 plays an important role in the processes of cancer proliferation, invasion and metastasis. LAMR1 antigens have been found to be targets of autoantibodies in subjects newly diagnosed with lung cancer.
The EDRN validation study ("Validation of Protein Markers for Lung Cancer Using CARET Sera and Proteomics Techniques") presents evidence for the occurrence in lung cancer sera of autoantibodies to annexin 1, 14-3-3 theta and LAMR1, which precede the onset of symptoms and diagnosis. The combined AUC for these three antigens in CARET pre-clinical lung cancer sera vs. matched controls was 0.73. While autoantibodies to various cancer antigens have been reported in newly diagnosed lung cancer patient sera, an important aspect of this study is testing for occurrence of autoantibodies in pre-diagnostic sera and demonstration of significant autoantibody reactivity against LAMR1, annexin 1 and 14-3-3 theta.
From NCBI Gene: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. miRNAs bind to complementary sequences in the 3' UTR of multiple target mRNAs, usually silencing the targeted mRNA. miRNAs may trigger the cleavage of their target molecules or act as translational repressors. miRNAs are thought to target approximatley 60% of all genes and are able to repress hundreds of targets each.
Shen 4-marker miRNA panel for lung cancer
Shen 4 marker miRNA panel for lung cancer
We initially validated expressions of a set of miRNAs in paired lung tumor tissues and plasma specimens from 28 stage I NSCLC patients by real-time quantitative reverse transcription PCR, and then evaluated diagnostic value of the plasma miRNAs in a cohort of 58 NSCLC patients and 29 healthy individuals. The altered miRNA expressions were reproducibly confirmed in the tumor tissues. The miRNAs were stably present and reliably measurable in plasma. A logistic regression model with the best prediction was defined on the basis of the four genes (miRNA-21, -126, -210, and 486-5p), yielding 86.22% sensitivity and 96.55% specificity in distinguishing NSCLC patients from the healthy controls. (Lab Invest. 2011 Apr;91(4):579-87, PMID: 21116241)
An immunoaffinity-mass spectrometry-based quantification approach was used to develop an assay for verifying the expression of potential biomarkers in patient serum samples from lung cancer patients.
secretory leukocyte protease inhibitor (antileukoproteinase)
WAP four-disulfide core domain protein 4
From NCBI Gene: This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]
Urban Fred Hutchinson Cancer Research Center
carcinoembryonic antigen-related cell adhesion molecule 5
From NCBI Gene: CEACAM5 is a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. CEACAM5 is a cell surface glycoprotein that plays a role in cell adhesion and in intracellular signaling. It is a receptor for E.coli Dr adhesins.
Eukaryotic Translation Elongation Factor 1 Alpha 1
Leukocyte Receptor Cluster (LRC) Member 7
Eukaryotic Translation Elongation Factor 1 Alpha 1-Like 14
Glucocorticoid Receptor AF-1 Specific Elongation Factor
Translation Elongation Factor 1 Alpha 1-Like 14
From NCBI Entrez Gene: This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]
This gene was formerly known as HIST1H2BC. From NCBI Gene: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. The protein has antibacterial and antifungal antimicrobial activity. The main transcript variant of this gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. This transcript variant lacks a polyA tail but instead contains a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Apr 2020]
Marks 7-gene signature for prostate cancer
Mercola 7-gene signature for prostate cancer
Significance Analysis of Microarray (SAM) was used to develop a 7-gene classifier. The overall prediction accuracy and sensitivity is 71% and 76%, respectively. The inclusion of the Gleason sum to the seven-gene classifier raised the prediction accuracy and sensitivity to 83% and 76% respectively This prognostic signature is closely associated with biochemical recurrence in patients after radical prostatectomy. The seven genes are: RRAGD, PQBP1, HIST1H2BC, ALDH1A2, TRIM22, RBPMS, HSPB8.
Postmeiotic Segregation Increased 2 Pseudogene 7
Postmeiotic Segregation Increased 2-Like Pseudogene 2
Postmeiotic Segregation Increased 2-Like 15
PMS2P7, previously known as PMS2L15, was thought to be part of a multigene family found on chromosome bands 7p22, 7p12-p13, 7q11, and 7q22. These genes have since been labeled pseudogenes.
NELL1 is a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation.
DCP and AFP-L3 risk biomarkers for HCC (Panel)
DCP and AFP-L3 panel for the detection of hepatocellular carcinoma (HCC). DCP (des-gamma carboxy-prothrombin) and AFP-L3 (lectin-bound alpha-fetoprotein) as a panel for detection of HCC.
Prothrombin Induced by Vitamin K Absence II
Des-gamma-carboxy prothrombin (DCP) is a non-functional precursor of prothrombin. Prothrombin, produced by the liver, serves a critical role in normal hemostasis. Functional prothrombin contains several gamma-carboxy-glutamic acid (Gla) residues that are produced as the result of post-translational modification of glutamic acid residues mediated by vitamin K dependent gamma-glutamyl carboxylase. The formation of Gla residues can be impaired in patients with vitamin K deficiency or in patients receiving oral anticoagulant therapy. DCP lacks thrombotic activity and has been shown in multiple studies to be present in the serum of patients with HCC. DCP arises from an acquired defect in the post-translational carboxylation of the pro-thrombin precursor in malignant hepatocytes.
AFP-L3, also known as lectin-bound AFP, is an isoform of AFP, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. The L3 isoform is specific to malignant tumors and its detected presence may serve to identify patients who could benefit from monitoring for the development of HCC in high risk populations (i.e. chronic hepatitis, liver cirrhosis).
From NCBI Gene: This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]
High-MW mucin-type glycoprotein expressed on epithelial cancer cells.
CDH13 is a member of the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region but, unlike the typical cadherin superfamily member, lacks the highly conserved cytoplasmic region. This particular cadherin is a putative mediator of cell-cell interaction in the heart and may act as a negative regulator of neural cell growth. The gene locus is hypermethylated or deleted in breast, ovarian and lung cancers.
alternative macrophage activation-associated CC chemokine 1
Pulmonary and activation-regulated chemokine
small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated
Alternative macrophage activation-associated CC chemokine 1
pulmonary and activation-regulated chemokine
chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
From NCBI Gene: This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining)
ATP-Dependent DNA Helicase II 80 KDa Subunit
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining; Ku Autoantigen, 80kD)
X-Ray Repair Cross-Complementing Protein 5
From NCBI Entrez Gene: The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
This study aimed to develop a serum test that could be used to discern NSCLC patients from cancer-free controls and may provide a means to indicate who should have spiral CT done. A large number of potential tumor autoantibodies for NSCLC were identified and validated. The six-analyte blood test that resulted from this study (consisting of IMPDH, phosphoglycerate mutase, ubiquilin, Annexin I, Annexin II, and HSP70-9B) possessed excellent test performance characteristics when tested against our 196 patient cohort that was composed of four clinically distinct groups, with only 13 patients misclassified overall.
Annexin 1 belongs to a family of calcium-dependent phospholipid binding proteins which are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. Annexin 1 also promotes membrane fusion and is involved in exocytosis. It seems to bind from two to four calcium ions with high affinity.
HFE2, also known as RGM-C, is a member of the repulsive guidance molecule (RGM) family and is involved in iron metabolism. HFE2 may act as a bone morphogenetic protein (BMP) coreceptor. It is also thought to be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Mutations in the HFE2 gene cause hemochromatosis type 2A, also called juvenile hemochromatosis (JH), an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.
From NCBI Gene: RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
Metastasis Associated Lung Adenocarcinoma Transcript 1 (Non-Protein Coding)
Long Intergenic Non-Protein Coding RNA 47
Metastasis Associated In Lung Adenocarcinoma Transcript 1
Nuclear Paraspeckle Assembly Transcript 2 (Non-Protein Coding)
MALAT1 is a non-protein coding RNA known to be associated with lung adenocarcinoma.
pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1)
heparin-binding neurite outgrowth-promoting factor 1
Heparin-binding growth-associated molecule
Heparin-binding neurite outgrowth-promoting factor 1
heparin-binding growth-associated molecule
Pleiotrophin, or PTN, is a secreted growth factor found in osteoblasts and brain tissue. PTN induces neurite outgrowth and is mitogenic for fibroblasts, epithelial, and endothelial cells. It binds anaplastic lymphoma kinase (ALK) which induces MAPK pathway activation, an important step in the anti-apoptotic signaling of PTN and regulation of cell proliferation.
heat shock protein 90kDa alpha (cytosolic), class A member 1
The HSP90AA1 protein, also known as HSP90a, is a molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved in cell cycle control and signal transduction. HSP90AA1 is a homodimer that assists in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene.
transmembrane protein with EGF-like and two follistatin-like domains 2
cancer/testis antigen family 120, member 2
HPP1 (also called TMEFF2) may be a survival factor for hippocampal and mesencephalic neurons. The shedded form (generated by proteolytic shedding) up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation. HPP1 is down-regulated in tumor cell lines in response to a high level of methylation in the 5' region. The CpG island methylation correlates with HPP1 silencing in tumor cell lines.
Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3
From NCBI Gene: This gene (CDKN2A) generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
TMSB4X, or thymosin beta-4, belongs to the thymosin beta family. It is an actin sequestering protein which plays an important role in the regulation of actin polymerization. TMSB4X binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization. It is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y.
CSTA, or cystatin-A, is a member of the cystatin superfamily, which includes proteins that contain multiple cystatin-like sequences. Some members of the cystatin superfamily are active cysteine protease inhibitors, of which there are three families: type 1 cystatins (stefins), type 2 cystatins, and kininogens. CSTA is a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. Stefins have been proposed as prognostic and diagnostic biomarkers for cancer.
Differentially expressed in cancerous and non-cancerous lung cells 1
SPON2, also known as spondin-2, is a cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. It binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Spondin-2 is essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the extacellular matrix for microbial pathogens. Spondin-2 also binds bacterial lipopolysaccharide.
From NCBI Gene: The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
From NCBI Gene: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Tumor-Associated Epithelial Membrane Antigen
Medullary Cystic Kidney Disease 1 (Autosomal Dominant)
Medullary Cystic Kidney Disease, Autosomal Dominant
From NCBI Gene: This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
The glandular kallikreins are a distinct group of serine proteases with molecular masses of 25,000 to 40,000. Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Several human kallikrein genes have been isolated. hK4 is expressed in the prostate.
PRKCI is a member of the protein kinase C (PKC) family of serine/threonine protein kinases. It is a calcium- and diacylglycerol-independent serine/threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis.
COL18A1, also known as endostatin, is the alpha chain of type XVIII collagen. COL18A1 is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. It also inhibits endothelial cell proliferation and angiogenesis, and may inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.
APOA1, a secreted protein belonging to the apolipoprotein A1/A4/E family, participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, APOA1 activates spermatozoa motility. This protein is a major protein of plasma HDL and is also found in chylomicrons. It is synthesized in the liver and small intestine. Defects in APOA1 are a cause of several diseases: 1) high density lipoprotein deficiency type 2 (HDLD2), also known as familial hypoalphalipoproteinemia, for which inheritance is autosomal dominant; 2) the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1), also known as analphalipoproteinemia or Tangier disease (TGD), a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness; 3) amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA), also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III, a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1; 4) amyloidosis type 8 (AMYL8), also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis, a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids.
Growth hormone release-inhibiting factor
The hormone somatostatin (SST) has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. The promoter of somatostatin, a primary inhibitor of gastrin-stimulated gastric acid secretion, is hypermethylated in 80% of human colon cancers. A synthetic analog of SST, known as octreotide or SMS 201-995, is available under the name Sandostatin (Novartis). It is used for the treatment of a variety of disorders including acromegaly and the symptomatic treatment of carcinoid tumors and vasoactive intestinal peptide tumors.
Sodium/Potassium Transporting ATPase Interacting
Sodium/Potassium-Transporting ATPase Subunit Beta-1-Interacting Protein
Na(+)/K(+)-Transporting ATPase Subunit Beta-1-Interacting Protein
Family With Sequence Similarity 77, Member C
From NCBI Gene: NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
Olfactory Receptor Family 51 Subfamily E Member 2
Prostate-Specific G-Protein Coupled Receptor
Olfactory Receptor, Family 51, Subfamily E, Member 3 Pseudogene
Olfactory Receptor, Family 51, Subfamily E, Member 2
Olfactory Receptor, Family 52, Subfamily A, Member 2
From NCBI Gene: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Epididymis Secretory Sperm Binding Protein Li 71p
TF, or transferrin, a glycoprotein with an approximate molecular weight of 76.5 kDa, is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum.
leucine-rich repeats and immunoglobulin-like domains protein 3
leucine-rich repeats and immunoglobulin-like domains 3
The LRIG3 protein is a widely expressed type I membrane protein. It contains three Ig-like C2-type (immunoglobulin-like) domains, 15 LRR (leucine-rich) repeats, 1 LRRCT domain, and 1 LRRNT domain.
Retinaldehyde-specific dehydrogenase type 2
aldehyde dehydrogenase 1 family, member A2
Aldehyde dehydrogenase family 1 member A2
retinaldehyde-specific dehydrogenase type 2
From NCBI Gene: This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
WAP four-disulfide core domain 2 [Precursor]
epididymis-specific, whey-acidic protein type, four-disulfide core
11 kDa protein that is a precursor to the epididymal secretory protein HE4; an inhibitor of an as yet unidentified protease. Highly expressed in a number of tumors cells lines, such ovarian, colon, breast, lung and renal cells lines.
The Risk of Ovarian Malignancy Algorithm (ROMA) algorithm was approved by the FDA in 2011. Research demonstrates that examining levels of HE4 and CA125 using the ROMA algorithm shows the highest accuracy in determining ovarian cancer risk in pre- and post-menopausal women who have an ovarian mass present.
From NCBI Gene: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
RNA-binding protein with multiple splicing
RNA binding protein with multiple splicing
From NCBI Gene: This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
The ubiquitin protein was named due to its ubiquitous presence in the human body. This small protein, comprised of 76 amino acids, is coded for by a family of genes whose translation products are fusion proteins. The four genes that are known to code for ubiquitin are UBB, UBC, UBA52, and RPS27A. Ubiquitin molecules are often bound to other proteins as a marker for degradation. From NCBI Gene: Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]
diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
Cholecystokinin-Releasing Peptide, Trypsin-Sensitive
Acyl-Coenzyme A Binding Domain Containing 1
DBI, diazepam binding inhibitor, was previously known as ACBP, acyl-coA binding protein. This protein is regulated by hormones, is involved in lipid metabolism, and is thought to act as a neuropeptide to regulate the action of the GABA receptor. DBI is conserved across species. The most highly conserved domain is the hydrophobic binding site for medium- and long-chain acyl-coA esters. DBI is involved in the regulation of pancreatic secretion and release of cholecystokinin. There are three pseudogenes for DBI on separate chromosomes. DBI has multiple transcript variants encoding different isoforms.
BAC clone RP11-499F19 is available in Genbank as accession number AC108477. There is no associated protein sequence and no known protein function.
cadherin 1, type 1, E-cadherin (epithelial)
From NCBI Gene: This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008]
Ovarian cancer-related tumor marker CA125
From NCBI Gene: This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIF, a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation, plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. MIF is also closely related to tumorigenesis.
The MiPS assay is a multiplex analysis of T2-ERG gene fusion, PCA3, and serum PSA (KLK3). It is commercially available through the University of Michigan MLabs. The MiPS assay tests for the presence of two prostate cancer biomarkers: a piece of RNA made from the PCA3 gene, found to be overactive in 95 percent of all prostate cancers, and another RNA marker that is found only when TMPRSS2 and ERG abnormally fuse. TMPRSS2:ERG, or T2-ERG, is a strong indicator of prostate cancer.
kallikrein 3, (prostate specific antigen)
KLK3, also known as PSA, or prostate specific antigen, a member of the kallikrein subgroup of serine proteases, is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Kallikreins are increasingly thought to be involved in carcinogenesis, and many act as cancer biomarkers. The product of the KLK3 gene is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum. KLK3, or PSA, is well known for its role in diagnosing and monitoring prostate cancer. There are several isoforms of KLK3, generated by alternate splicing and transcript variants.
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
YWHAQ, also known as 14-3-3 theta, belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. The 14-3-3 proteins have a wide range of ligands, are involved in a variety of biological pathways, and are known to be overexpressed in some human lung cancers, suggesting that they may play a role in tumorigenesis. 14-3-3 theta is an adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway. It binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. 14-3-3 theta antigens have been found to be targets of autoantibodies in subjects newly diagnosed with lung cancer.
Des-ubiquitin is formed when a cysteine protease cleaves two carboxy-terminal glycine residues from ubiquitin.
Polyomavirus enhancer-binding protein 2 alpha C subunit
SL3/AKV core-binding factor alpha C subunit
RUNX3 is a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
nuclear protein containing WW domain 38 kD
Sutherland-Haan X-linked mental retardation syndrome
38 kDa nuclear protein containing a WW domain
From NCBI Gene: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Leukocyte-endothelial cell adhesion molecule 1
leukocyte-endothelial cell adhesion molecule 1
From NCBI Gene and UniProtKB/Swiss-Prot: sL-selectin, also known as SELL, is a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. SELL mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes and promotes initial tethering and rolling of leukocytes in endothelia, facilitating their migration into secondary lymphoid organs and inflammation sites. SELL contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. Alternatively spliced transcript variants have been found for this gene.
From NCBI Entrez Gene: In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004]