| Name |
|---|
DLEC1 Genedeleted in lung and esophageal cancer 1 The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016] |
SCLC1 Genesmall cell cancer of the lung |
DLEC1P1 Genedeleted in lung and esophageal cancer 1 pseudogene 1 |
LNCR1 GeneLung cancer 1 |
LNCR3 GeneLung cancer susceptibility 3 |
LNCR4 GeneLung cancer susceptibility 4 |
LNCR5 GeneLung cancer susceptibility 5 |
LUCAT1 Genelung cancer associated transcript 1 (non-protein coding) |
LACAT1 Genelung adenocarcinoma-associated transcript 1 |
LACAT8 Genelung adenocarcinoma-associated transcript 8 |
MYCL Genev-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of inner ear auditory receptor cell differentiation. Located in chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
MALAT1 Genemetastasis associated lung adenocarcinoma transcript 1 (non-protein coding) This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015] |
COX4I2 Genecytochrome c oxidase subunit IV isoform 2 (lung) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008] |
LCA10 Genelung carcinoma-associated 10 |
LOC100291666 Geneserologically defined breast cancer antigen NY-BR-40 |
CT45A9 Genecancer/testis antigen family 45, member A9 |
CT45A8 Genecancer/testis antigen family 45, member A8 |
CT45A1 Genecancer/testis antigen family 45, member A1 |
CT45A2 Genecancer/testis antigen family 45, member A2 This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, Apr 2014] |
CT45A5 Genecancer/testis antigen family 45, member A5 This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
CT45A4 Genecancer/testis antigen family 45, member A4 |
CT45A7 Genecancer/testis antigen family 45, member A7 |
CT45A6 Genecancer/testis antigen family 45, member A6 |
LOC650024 Genecancer/testis antigen 55 pseudogene |
CT45A3 Genecancer/testis antigen family 45, member A3 |
SDCCAG8 Geneserologically defined colon cancer antigen 8 This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010] |
SDCCAG3 Geneserologically defined colon cancer antigen 3 Involved in several processes, including endocytic recycling; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in several cellular components, including endosome; microtubule organizing center; and retromer complex. [provided by Alliance of Genome Resources, Mar 2025] |
CT45A11P Genecancer/testis antigen family 45, member A11, pseudogene |
CT45B1P Genecancer/testis antigen family 45, member B1 pseudogene |
CT45A10 Genecancer/testis antigen family 45, member A10 Enables identical protein binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
CAGE1 Genecancer antigen 1 |
CTAG1A Genecancer/testis antigen 1A The protein encoded by this gene is a tumor cell antigen found in various types of cancers, which makes it a good candidate for a cancer vaccine. This gene is also highly expressed in normal ovary and testis tissues. An identical copy of this gene is found on the same chromosome. [provided by RefSeq, Dec 2015] |
CTAG1B Genecancer/testis antigen 1B The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012] |
CT55 Genecancer/testis antigen 55 Involved in spermatogenesis. Located in acrosomal vesicle and sperm flagellum. Implicated in X-linked spermatogenic failure 7. [provided by Alliance of Genome Resources, Mar 2025] |
CT83 Genecancer/testis antigen 83 Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
CTAG2 Genecancer/testis antigen 2 This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
LOC727838 Genecancer/testis antigen family 47, member A11 pseudogene |
SDCCAG3P2 Geneserologically defined colon cancer antigen 3 pseudogene 2 |
SDCCAG3P1 Geneserologically defined colon cancer antigen 3 pseudogene 1 |
CT62 Genecancer/testis antigen 62 |
CT47A7 Genecancer/testis antigen family 47, member A7 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A4 Genecancer/testis antigen family 47, member A4 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A3 Genecancer/testis antigen family 47, member A3 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A2 Genecancer/testis antigen family 47, member A2 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A1 Genecancer/testis antigen family 47, member A1 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. This locus is the most telomeric of the cluster.[provided by RefSeq, Sep 2010] |
CT47A9 Genecancer/testis antigen family 47, member A9 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A8 Genecancer/testis antigen family 47, member A8 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47B1 Genecancer/testis antigen family 47, member B1 |
LOC728470 Genecancer/testis antigen 55 pseudogene |
CT47A6 Genecancer/testis antigen family 47, member A6 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A5 Genecancer/testis antigen family 47, member A5 |
LOC440934 Genecancer/testis antigen 75 |
LOC100506955 Genecancer/testis antigen 83 pseudogene |
CT47A12 Genecancer/testis antigen family 47, member A12 |
CT47A11 Genecancer/testis antigen family 47, member A11 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] |
CT47A10 Genecancer/testis antigen family 47, member A10 |
CT47C1 Genecancer/testis antigen family 47 member C1 |
ITGAL Geneintegrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
ITGAE Geneintegrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] |
CEACAM6 Genecarcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014] |
LVCAT8 Geneliver cancer-associated transcript 8 |
LVCAT1 Geneliver cancer-associated transcript 1 |
GACAT2 Genegastric cancer associated transcript 2 (non-protein coding) |
GACAT1 Genegastric cancer associated transcript 1 (non-protein coding) |
LVCAT5 Geneliver cancer-associated transcript 5 |
PCAT1 Geneprostate cancer associated transcript 1 (non-protein coding) This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017] |
PCAT2 Geneprostate cancer associated transcript 2 (non-protein coding) |
PCAT4 Geneprostate cancer associated transcript 4 (non-protein coding) |
PCAT7 Geneprostate cancer associated transcript 7 (non-protein coding) |
SCHLAP1 GeneSWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding) |
HPCX Genehereditary prostate cancer, X-linked |
PRAC2 Geneprostate cancer susceptibility candidate 2 This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
PRAC1 Geneprostate cancer susceptibility candidate 1 This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008] |
GCRG224 Genegastric cancer-related gene GCRG224 |
HPC5 Geneprostate cancer, hereditary, 5 |
HPC4 GeneProstate cancer, hereditary, 4 |
HPC3 GeneProstate cancer, hereditary, 3 |
DRAIC Genedownregulated RNA in cancer, inhibitor of cell invasion and migration |
GACAT3 Genegastric cancer associated transcript 3 (non-protein coding) |
SNCG Genesynuclein, gamma (breast cancer-specific protein 1) This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010] |
HPC7 GeneProstate cancer, hereditary, 7 |
LOC101059986 Genecancer-related nucleoside-triphosphatase pseudogene |
PCAT6 Geneprostate cancer associated transcript 6 (non-protein coding) |
AATBC Geneapoptosis associated transcript in bladder cancer |
HPCQTL19 GeneProstate cancer aggressiveness quantitative trait locus on chromosome 19 |
ORAOV1 Geneoral cancer overexpressed 1 Involved in protein maturation by [4Fe-4S] cluster transfer; ribosomal large subunit biogenesis; and translational initiation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
CASC4P1 Genecancer susceptibility candidate 4 pseudogene 1 |
BCAR1P2 Genebreast cancer anti-estrogen resistance 1 pseudogene 2 |
BCAR1P1 Genebreast cancer anti-estrogen resistance 1 pseudogene 1 |
CASC2 Genecancer susceptibility candidate 2 (non-protein coding) Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025] |
CASC1 Genecancer susceptibility candidate 1 Predicted to enable beta-tubulin binding activity and microtubule binding activity. Predicted to be located in cilium and microtubule cytoskeleton. Predicted to be part of axonemal dynein complex. Predicted to be active in axoneme and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025] |
CASC6 Genecancer susceptibility candidate 6 (non-protein coding) |
CASC5 Genecancer susceptibility candidate 5 The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] |
CASC4 Genecancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] |
CASC8 Genecancer susceptibility candidate 8 (non-protein coding) |
CASC18 Genecancer susceptibility candidate 18 (non-protein coding) |
BRCATA GeneBreast cancer, 11;22 translocation associated |
OCR1 Geneovarian cancer-related protein 1 |
SKCG-1 Genesporadic kidney cancer gene 1 |
OVCAS1 GeneOvarian cancer, epithelial, susceptibility to |
BRCAT54 Genebreast cancer-associated transcript 54 |
DEC1 Genedeleted in esophageal cancer 1 The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008] |
PRCAT47 Geneprostate cancer-associated 47 |
GREB1L Genegrowth regulation by estrogen in breast cancer-like Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Mar 2025] |
HPC15 GeneProstate cancer, hereditary, 15 |
HPC14 GeneProstate cancer, hereditary, 14 |
HPC10 GeneProstate cancer, hereditary, 10 |
ORAOV1P1 Geneoral cancer overexpressed 1 pseudogene 1 |
HPC6 GeneProstate cancer, susceptibility to |
HPC9 GeneProstate cancer, hereditary, 9 |
CASC3 Genecancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] |
CASC7 Genecancer susceptibility candidate 7 (non-protein coding) |
CASC9 Genecancer susceptibility candidate 9 (non-protein coding) |
CASC11 Genecancer susceptibility candidate 11 (non-protein coding) Enables chromatin-protein adaptor activity and promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
CASC10 Genecancer susceptibility candidate 10 |
CASC17 Genecancer susceptibility candidate 17 (non-protein coding) |
CASC16 Genecancer susceptibility candidate 16 (non-protein coding) |
CASC15 Genecancer susceptibility candidate 15 (non-protein coding) This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017] |
CASC19 Genecancer susceptibility candidate 19 (non-protein coding) |
VOPP1 Genevesicular, overexpressed in cancer, prosurvival protein 1 Enables enzyme binding activity. Located in cytoplasmic vesicle membrane; late endosome; and lysosome. [provided by Alliance of Genome Resources, Mar 2025] |
CRCS10 GeneColorectal cancer, susceptibility to, 10 |
CRCS11 GeneColorectal cancer, susceptibility to, 11 |
COLCA1 Genecolorectal cancer associated 1 This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
CCAT2 Genecolon cancer associated transcript 2 (non-protein coding) This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017] |
CASC23 Genecancer susceptibility candidate 23 (non-protein coding) |
UCA1 Geneurothelial cancer associated 1 (non-protein coding) This gene produces a long non-coding RNA that was found to be upregulated in bladder cancer and plays a regulatory role in cell proliferation. This transcript regulates several genes, including CREB (cAMP responsive element binding protein). Expression of this transcript is regulated by CCAAT/enhancer-binding protein-alpha. [provided by RefSeq, Dec 2017] |
MACC1 Genemetastasis associated in colon cancer 1 MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009] |
CASC22 Genecancer susceptibility candidate 22 (non-protein coding) |
CASC20 Genecancer susceptibility candidate 20 (non-protein coding) |
CASC21 Genecancer susceptibility candidate 21 (non-protein coding) |
HIC1 Genehypermethylated in cancer 1 This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010] |
HIC2 Genehypermethylated in cancer 2 Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SCAI Genesuppressor of cancer cell invasion This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] |
CRCS8 GeneColorectal cancer, susceptibility to, 8 |
CRCS9 Genecolorectal cancer, susceptibility to, 9 |
CRCS2 GeneColorectal cancer, susceptibility to, 2 |
CRCS5 GeneColorectal cancer, susceptibility to, 5 |
BRCA1 Genebreast cancer 1, early onset This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein 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). This gene product 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. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020] |
BRCA3 Genebreast cancer 3 |
BRCA2 Genebreast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020] |
PCAT29 Geneprostate cancer associated transcript 29 (non-protein coding) This gene is thought to produce a functional long non-coding RNA. This transcript was identified in prostate cancer cells and may suppress tumor formation. [provided by RefSeq, Feb 2015] |
BRMS1L Genebreast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] |
HPCX2 GeneProstate cancer, hereditary, X-linked 2 |
CCAT1 Genecolon cancer associated transcript 1 (non-protein coding) This gene produces a long non-coding RNA that promotes tumor formation and is upregulated in colon cancer and other cancer cell types. This transcript may regulate long range chromosomal interactions, including at the Myc oncoprotein locus. This RNA may also function as a molecular sponge for microRNAs. [provided by RefSeq, Dec 2017] |
PBOV1 Geneprostate and breast cancer overexpressed 1 This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011] |
GAEC1 Genegene amplified in esophageal cancer 1 |
THCAT158 Genethyroid cancer-associated transcript 158 |
BRCD1 Genecancer, familial, with in vitro radioresistance |
PCAP Genepredisposing for prostate cancer |
PCA3 Geneprostate cancer associated 3 (non-protein coding) This gene produces a spliced, long non-coding RNA that is highly overexpressed in most types of prostate cancer cells and is used as a specific biomarker for this type of cancer. This gene is embedded in an intronic region of the prune2 gene on the opposite DNA strand. The transcript regulates prune2 levels through formation of a double-stranded RNA that undergoes adenosine deaminase acting on RNA-dependent adenosine-to-inosine RNA editing. In prostate cancer derived cells, overexpression of PCA induced downregulation of prune2, leading to decreased cell proliferation. Conversely, silencing in prostate cancer cells resulted in increased proliferation. Regulation of this gene appears to be sensitive to androgen-receptor activation, a molecular signature of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017] |
BCPR GeneBreast cancer-related regulator of TP53 |
FALEC Genefocally amplified long non-coding RNA in epithelial cancer |
BREA2 Genebreast cancer estrogen-induced apoptosis 2 |
LOC100288160 Geneesophagus cancer-related gene-2 interaction susceptibility protein |
LDOC1 Geneleucine zipper, down-regulated in cancer 1 The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] |
CRCS6 Genecolorectal cancer, susceptibility to, 6 |
BCAR4 Genebreast cancer anti-estrogen resistance 4 (non-protein coding) This gene produces a spliced long non-coding RNA (lncRNA) that has been implicated in breast cancer metastasis. It was originally identified in a screen for genes responsible for the development of resistance to anti-estrogens in breast cancer cells. It is thought that release of CCL21 enables this lncRNA to bind to the SNIP1 and PNUTS transcription factors, thereby activating a non-canonical GLI-dependent hedgehog signaling pathway that promotes cancer cell migration and invasion. A similar gene in cow expresses a protein in mature oocytes and preimplantation embryos. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2015] |
BCAR1 Genebreast cancer anti-estrogen resistance 1 The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017] |
BCAR3 Genebreast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
BLACAT1 Genebladder cancer associated transcript 1 (non-protein coding) |
PCAT19 Geneprostate cancer associated transcript 19 (non-protein coding) |
PCAT18 Geneprostate cancer associated transcript 18 (non-protein coding) Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
PCAT14 Geneprostate cancer associated transcript 14 (non-protein coding) |
LOC729086 Genevesicular, overexpressed in cancer, prosurvival protein 1 pseudogene |
BRCAT107 Genebreast cancer-associated transcript 107 |
GREB1 Genegrowth regulation by estrogen in breast cancer 1 This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
THCAT126 Genethyroid cancer-associated transcript 126 |
PRNCR1 Geneprostate cancer associated non-coding RNA 1 |
LDOC1L Geneleucine zipper, down-regulated in cancer 1-like |
NTPCR Genenucleoside-triphosphatase, cancer-related The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016] |
BRMS1 Genebreast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
COLCA2 Genecolorectal cancer associated 2 Enables DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
CRCS7 Genecolorectal cancer, susceptibility to, 7 |
BLCAP Genebladder cancer associated protein This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015] |
SCAT2 GeneS-phase cancer associated transcript 2 |
SCAT8 GeneS-phase cancer associated transcript 8 |
LNC-LBCS GenelncRNA bladder and prostate cancer suppressor, hnRNPK interacting |
ITGA3 Geneintegrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015] |
ITGA4 Geneintegrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
GAGE12C GeneG antigen 12C |
SAGE1 Genesarcoma antigen 1 This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008] |
ITGA2B Geneintegrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016] |
LY6G6C Genelymphocyte antigen 6 complex, locus G6C LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] |
LY6G6E Genelymphocyte antigen 6 complex, locus G6E (pseudogene) LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] |
LOC100506634 Genehepatocellular carcinoma-associated antigen HCA25a |
MAGEH1 Genemelanoma antigen family H1 This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013] |
PCNA Geneproliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008] |
GAGE1 GeneG antigen 1 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] |
GAGE3 GeneG antigen 3 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
GAGE5 GeneG antigen 5 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
GAGE4 GeneG antigen 4 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
GAGE6 GeneG antigen 6 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
MAGEL2 Genemelanoma antigen family L2 Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010] |
LY6G6D Genelymphocyte antigen 6 complex, locus G6D LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009] |
MNDA Genemyeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008] |
PCNAP1 Geneproliferating cell nuclear antigen pseudogene 1 |
PCNAP4 Geneproliferating cell nuclear antigen pseudogene 4 |
NPSA Genenovel prostate-specific antigen |
PAGE5 GeneP antigen family, member 5 (prostate associated) This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. The encoded protein may protect cells from programmed cell death. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jan 2015] |
LY9 Genelymphocyte antigen 9 LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008] |
S7 Genesurface antigen (chromosome 7) 2 |
MAGED4B Genemelanoma antigen family D4B This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] |
LOC100420250 Genemelanoma antigen family A4 pseudogene |
LOC554223 Genehistocompatibility antigen-related |
ITGB1 Geneintegrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. 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. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
ITGB3 Geneintegrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008] |
LY96 Genelymphocyte antigen 96 This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010] |
LOC100422623 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene |
MAGEA7P Genemelanoma antigen family A7, pseudogene |
SSB GeneSjogren syndrome antigen B (autoantigen La) The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014] |
GAGE13 GeneG antigen 13 |
MSK32 Geneantigen identified by monoclonal antibody K66 |
MSK38 Geneantigen identified by monoclonal antibody O5 |
XM GeneXm(a) antigen |
GAGE8 GeneG antigen 8 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
D6S207E GeneMinor histocompatibility antigen HA-2 |
MAGEE2 Genemelanoma antigen family E2 This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011] |
MAGEE1 Genemelanoma antigen family E1 This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010] |
PAGE4 GeneP antigen family, member 4 (prostate associated) This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
PAGE2 GeneP antigen family, member 2 (prostate associated) |
PAGE3 GeneP antigen family, member 3 (prostate associated) This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015] |
PAGE1 GeneP antigen family, member 1 (prostate associated) This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008] |
LIMS3L GeneLIM and senescent cell antigen-like domains 3-like Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
EEA1 Geneearly endosome antigen 1 Enables 1-phosphatidylinositol binding activity; GTP-dependent protein binding activity; and protein homodimerization activity. Involved in endocytosis and vesicle fusion. Located in cytosol and early endosome membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101928108 Genelymphocyte antigen 6A-2/6E-1-like Predicted to be located in side of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC649783 GeneHLA class II histocompatibility antigen-like |
CTAGE1 Genecutaneous T-cell lymphoma-associated antigen 1 Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105379652 GeneDLA class II histocompatibility antigen, DR-1 beta chain-like |
LOC392435 Genemelanoma antigen family B3 pseudogene |
LOC392436 Genemelanoma antigen family B4 pseudogene |
LOC728307 Genemelanoma associated antigen (mutated) 1-like 1 pseudogene |
GAGE10 GeneG antigen 10 |
LOC100420318 Genemelanoma antigen family A, 12 pseudogene |
MAGEA2B Genemelanoma antigen family A2B This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008] |
LOC100420331 Genemelanoma antigen family A10 pseudogene |
LOC100420334 Genemelanoma antigen family A11 pseudogene |
MAGEF1 Genemelanoma antigen family F1 This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008] |
LAGE3 GeneL antigen family, member 3 This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008] |
SPAG11B Genesperm associated antigen 11B This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] |
SPAG11A Genesperm associated antigen 11A Involved in antimicrobial humoral immune response mediated by antimicrobial peptide. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
MAGEA11 Genemelanoma antigen family A11 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
LY75 Genelymphocyte antigen 75 Predicted to enable signaling receptor activity. Predicted to be involved in immune response and inflammatory response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM19 Genecarcinoembryonic antigen-related cell adhesion molecule 19 Predicted to be involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to be located in membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM18 Genecarcinoembryonic antigen-related cell adhesion molecule 18 |
CEACAM16 Genecarcinoembryonic antigen-related cell adhesion molecule 16 The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012] |
MAGEB17 Genemelanoma antigen family B17 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100128356 Geneprotein transactivated by hepatitis B virus E antigen |
MYSA Genemyasthenic (Lambert-Eaton) syndrome antigen A |
MINA GeneMYC induced nuclear antigen MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008] |
SSFA2 Genesperm specific antigen 2 Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
XAGE1B GeneX antigen family, member 1B This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] |
XAGE1E GeneX antigen family, member 1E This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] |
BAGE GeneB melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008] |
LOC389465 GeneSjogren syndrome antigen B pseudogene |
PRAME Genepreferentially expressed antigen in melanoma This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
SPECC1 Genesperm antigen with calponin homology and coiled-coil domains 1 The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] |
LIMS2 GeneLIM and senescent cell antigen-like domains 2 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
LIMS3 GeneLIM and senescent cell antigen-like domains 3 Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LIMS1 GeneLIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] |
MIC12 Geneantigen identified by monoclonal antibody 30.2A8 |
SP100 GeneSP100 nuclear antigen This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011] |
PAGE2B GeneP antigen family, member 2B |
MAGEA9B Genemelanoma antigen family A9B MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009] |
AMICA1 Geneadhesion molecule, interacts with CXADR antigen 1 Enables integrin binding activity and protein homodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules and myeloid leukocyte migration. Located in bicellular tight junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MGEA5 Genemeningioma expressed antigen 5 (hyaluronidase) The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008] |
PTCRA Genepre T-cell antigen receptor alpha The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] |
FEA GeneF9 embryonic antigen |
LOC100133092 GeneP antigen family, member 4 (prostate associated) pseudogene |
LY6G5C Genelymphocyte antigen 6 complex, locus G5C LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] |
LY6G5B Genelymphocyte antigen 6 complex, locus G5B LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] |
MAGEA12 Genemelanoma antigen family A12 This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014] |
MAGEA10 Genemelanoma antigen family A10 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011] |
STAG3L4 Genestromal antigen 3-like 4 (pseudogene) |
STAG3L3 Genestromal antigen 3-like 3 (pseudogene) Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
STAG3L2 Genestromal antigen 3-like 2 (pseudogene) Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
STAG3L1 Genestromal antigen 3-like 1 (pseudogene) Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105373377 Geneputative paraneoplastic antigen-like protein 6B-like protein LOC649238 |
THY1 GeneThy-1 cell surface antigen This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
LAG5 GeneLeukocyte antigen group 5 |
CEACAM20 Genecarcinoembryonic antigen-related cell adhesion molecule 20 Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation of immune system process and signal transduction. Predicted to be located in apical plasma membrane and microvillus membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM21 Genecarcinoembryonic antigen-related cell adhesion molecule 21 Predicted to be involved in T cell activation and immune response. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MAGEC1 Genemelanoma antigen family C1 This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008] |
MAGEC3 Genemelanoma antigen family C3 This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
MAGEC2 Genemelanoma antigen family C2 This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009] |
STAG2 Genestromal antigen 2 The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
STAG1 Genestromal antigen 1 This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008] |
PCNAP2 Geneproliferating cell nuclear antigen pseudogene 2 |
S12 Genesurface antigen (X-linked) 3 |
S11 Genesurface antigen (X-linked) 2 |
EBAG9P1 Geneestrogen receptor binding site associated, antigen, 9 pseudogene 1 |
GAGE7 GeneG antigen 7 |
MIC7 Geneantigen identified by monoclonal antibody 28.3.7 |
LOC100533669 Genemelanoma antigen family A10 pseudogene |
MUM1 Genemelanoma associated antigen (mutated) 1 Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC644893 Genemelanoma antigen family E1 pseudogene |
GATS GeneGATS, stromal antigen 3 opposite strand Predicted to be involved in cellular response to L-arginine and negative regulation of TORC1 signaling. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
FOLH1 Genefolate hydrolase (prostate-specific membrane antigen) 1 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010] |
XAGE5 GeneX antigen family, member 5 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] |
XAGE3 GeneX antigen family, member 3 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008] |
LOC100420228 Genemelanoma antigen family C3 pseudogene |
SPAG8 Genesperm associated antigen 8 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012] |
SPAG9 Genesperm associated antigen 9 This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] |
SPAG6 Genesperm associated antigen 6 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
SPAG5 Genesperm associated antigen 5 This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008] |
SPAG1 Genesperm associated antigen 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008] |
STEAP1 Genesix transmembrane epithelial antigen of the prostate 1 This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008] |
LOC101927262 Genemelanoma-associated antigen C1-like |
LOC392555 Genemelanoma antigen family C2 pseudogene |
NOVA2 Geneneuro-oncological ventral antigen 2 Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
NOVA1 Geneneuro-oncological ventral antigen 1 This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
RHD GeneRh blood group, D antigen The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
FASA Genefertility associated sperm antigen |
LOC100286945 GeneX antigen family, member 3 pseudogene |
MAGED1 Genemelanoma antigen family D1 This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
MAGED2 Genemelanoma antigen family D2 This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] |
MAGED4 Genemelanoma antigen family D4 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
GAGE12H GeneG antigen 12H |
GAGE12I GeneG antigen 12I This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
GAGE12J GeneG antigen 12J |
GAGE12B GeneG antigen 12B |
GAGE12D GeneG antigen 12D |
GAGE12E GeneG antigen 12E |
GAGE12F GeneG antigen 12F |
GAGE12G GeneG antigen 12G |
STAG3L5P Genestromal antigen 3-like 5 pseudogene |
PSCA Geneprostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
ISCW GeneImmune suppression to streptococcal antigen |
LOC101060042 GeneX antigen family member 3-like |
LOC105379570 GeneDLA class II histocompatibility antigen, DR-1 beta chain-like |
LY6G6F Genelymphocyte antigen 6 complex, locus G6F The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008] |
MEA1 Genemale-enhanced antigen 1 Predicted to be involved in male gonad development and spermatogenesis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100418862 Genesperm antigen with calponin homology and coiled-coil domains 1 pseudogene |
LOC105379665 GeneDLA class II histocompatibility antigen, DR-1 beta chain-like |
SPECC1L Genesperm antigen with calponin homology and coiled-coil domains 1-like This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] |
CDW12 GeneCDw12 antigen |
STAG3 Genestromal antigen 3 The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014] |
KAAG1 Genekidney associated antigen 1 Predicted to be involved in immune response. [provided by Alliance of Genome Resources, Mar 2025] |
LOC613206 Genemyeloproliferative disease associated tumor antigen 5 |
LOC100420322 Genemelanoma antigen family A10 pseudogene |
LOC100420324 Genemelanoma antigen family A10 pseudogene |
CDW93 GeneCDw93 antigen |
LOC649201 Geneparaneoplastic antigen like 6A-like |
LOC100421663 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
LOC651644 GeneLIM and senescent cell antigen-like domains 2 pseudogene |
SART1 Genesquamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] |
LOC100420321 Genemelanoma antigen family A11 pseudogene |
LOC100420323 Genemelanoma antigen family B18 pseudogene |
LOC100420325 Genemelanoma antigen family B16 pseudogene |
LOC100421746 GeneP antigen family, member 5 (prostate associated) pseudogene |
EBAG9 Geneestrogen receptor binding site associated, antigen, 9 This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013] |
LOC105379658 GeneDLA class II histocompatibility antigen, DR-1 beta chain-like |
PNMA1 Geneparaneoplastic Ma antigen 1 This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014] |
PNMA3 Geneparaneoplastic Ma antigen 3 The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
PNMA2 Geneparaneoplastic Ma antigen 2 Predicted to be involved in positive regulation of apoptotic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
PNMA5 Geneparaneoplastic Ma antigen family member 5 This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011] |
TINAGL1 Genetubulointerstitial nephritis antigen-like 1 The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
BA255A11.4 Genemelanoma antigen pseudogene |
PNMA6A Geneparaneoplastic Ma antigen family member 6A |
PNMA6B Geneparaneoplastic Ma antigen family member 6B (pseudogene) |
CD165 GeneCD165 antigen |
MAGEA9 Genemelanoma antigen family A9 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] |
MAGEA8 Genemelanoma antigen family A8 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009] |
MAGEA3 Genemelanoma antigen family A3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] |
MAGEA2 Genemelanoma antigen family A2 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] |
MAGEA1 Genemelanoma antigen family A1 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] |
MAGEA6 Genemelanoma antigen family A6 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
MAGEA5 Genemelanoma antigen family A5 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene is interpreted to be a pseudogene. Read-through transcription exists between this gene and the upstream melanoma antigen family A, 10 (MAGEA10) gene. [provided by RefSeq, Dec 2020] |
MAGEA4 Genemelanoma antigen family A4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. 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. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020] |
SAGE2P Genesarcoma antigen 2, pseudogene Predicted to be involved in snRNA 3'-end processing. Predicted to be part of integrator complex. [provided by Alliance of Genome Resources, Mar 2025] |
GAGE2D GeneG antigen 2D |
MAGEB18 Genemelanoma antigen family B18 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
MAGEB10 Genemelanoma antigen family B10 This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010] |
MAGEB16 Genemelanoma antigen family B16 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105373200 GeneG antigen 2D-like |
LOC100421630 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
FOSL1P1 GeneFOS-like antigen 1 pseudogene 1 |
LOC100420249 Genemelanoma antigen family C, 3 pseudogene |
LOC100420245 Genemelanoma antigen family B3 pseudogene |
PNMAL2 Geneparaneoplastic Ma antigen family-like 2 |
PNMAL1 Geneparaneoplastic Ma antigen family-like 1 |
LY86 Genelymphocyte antigen 86 Acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
COL4A3 Genecollagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] |
LOC649238 Geneputative paraneoplastic antigen-like protein 6B-like |
LOC100288590 Genecutaneous T-cell lymphoma-associated antigen 1 pseudogene |
SPAG16 Genesperm associated antigen 16 Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] |
SPAG17 Genesperm associated antigen 17 This gene encodes a central pair protein present in the axonemes of cells with a `9 + 2` organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017] |
PSMAGEA Genemelanoma antigen family A4 pseudogene |
MER5 Geneantigen identified by monoclonal antibody 2D8 |
GAGE2E GeneG antigen 2E |
GAGE2A GeneG antigen 2A |
GAGE2B GeneG antigen 2B |
GAGE2C GeneG antigen 2C This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] |
MSK9 Geneantigen identified by monoclonal antibody K15 |
CD139 GeneCD139 antigen |
CEACAMP10 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 10 |
CEACAMP11 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 11 |
MUM1L1 Genemelanoma associated antigen (mutated) 1-like 1 This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] |
LAGE3P1 GeneL antigen family, member 3 pseudogene 1 |
MAGEB2 Genemelanoma antigen family B2 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] |
MAGEB3 Genemelanoma antigen family B3 This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008] |
MAGEB1 Genemelanoma antigen family B1 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] |
MAGEB6 Genemelanoma antigen family B6 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] |
MAGEB4 Genemelanoma antigen family B4 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008] |
MAGEB5 Genemelanoma antigen family B5 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
FOSL1 GeneFOS-like antigen 1 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] |
FOSL2 GeneFOS-like antigen 2 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014] |
CEACAMP8 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 8 |
CEACAMP9 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 9 |
CEACAMP2 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 2 |
CEACAMP3 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 3 |
CEACAMP1 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 1 |
CEACAMP6 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 6 |
CEACAMP7 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 7 |
CEACAMP4 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 4 |
CEACAMP5 Genecarcinoembryonic antigen-related cell adhesion molecule pseudogene 5 |
PCNAP3 Geneproliferating cell nuclear antigen pseudogene 3 |
COL4A3BP Genecollagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
TSTA3 Genetissue specific transplantation antigen P35B Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008] |
CEACAM22P Genecarcinoembryonic antigen-related cell adhesion molecule 22, pseudogene |
LOC653588 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
LOC392440 Genemelanoma antigen family B18 pseudogene |
TP250 GeneT-cell activation antigen p250 |
LOC100130052 Genemelanoma antigen family B3 pseudogene |
LOC100420230 Genemelanoma antigen family C3 pseudogene |
SART3 Genesquamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] |
LOC105379648 GeneDLA class II histocompatibility antigen, DR-1 beta chain-like |
XAGE2 GeneX antigen family, member 2 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] |
LOC728317 Genemelanoma associated antigen (mutated) 1-like 1 pseudogene |
LOC100533757 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
SPAG7 Genesperm associated antigen 7 Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
SPAG4 Genesperm associated antigen 4 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
MSK10 Geneantigen identified by monoclonal antibody AJ425 |
LOC100419702 Genenecdin, melanoma antigen (MAGE) family member pseudogene |
TINAG Genetubulointerstitial nephritis antigen This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] |
MAGEA13P Genemelanoma antigen family A13, pseudogene Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101927681 Gene5E5 antigen-like |
NDN Genenecdin, melanoma antigen (MAGE) family member This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] |
LOC105369230 GeneHLA class II histocompatibility antigen, DRB1-7 beta chain |
BST1 Genebone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] |
BST2 Genebone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] |
LY6E Genelymphocyte antigen 6 complex, locus E This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis and immunological regulation. The protein is also involved in modulation of viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2021] |
LY6D Genelymphocyte antigen 6 complex, locus D Predicted to be involved in lymphocyte differentiation. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025] |
LY6K Genelymphocyte antigen 6 complex, locus K Predicted to be involved in binding activity of sperm to zona pellucida. Predicted to act upstream of or within flagellated sperm motility. Predicted to be located in cell surface and plasma membrane. Predicted to be active in acrosomal vesicle. [provided by Alliance of Genome Resources, Mar 2025] |
LY6H Genelymphocyte antigen 6 complex, locus H Predicted to enable acetylcholine receptor binding activity and acetylcholine receptor inhibitor activity. Predicted to be involved in acetylcholine receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SAG GeneS-antigen; retina and pineal gland (arrestin) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008] |
LOC100507703 GeneHLA class I histocompatibility antigen, A-69 alpha chain-like |
MFI2 Geneantigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008] |
SAGE4P Genesarcoma antigen 4, pseudogene |
SAGE3P Genesarcoma antigen 3, pseudogene |
CEACAM1 Genecarcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes 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. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010] |
CEACAM3 Genecarcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] |
CEACAM5 Genecarcinoembryonic antigen-related cell adhesion molecule 5 This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
CEACAM4 Genecarcinoembryonic antigen-related cell adhesion molecule 4 Predicted to enable protein tyrosine kinase binding activity. Involved in phagocytosis. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CEACAM7 Genecarcinoembryonic antigen-related cell adhesion molecule 7 This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
CEACAM8 Genecarcinoembryonic antigen-related cell adhesion molecule 8 Enables protein heterodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located in cell surface and extracellular space. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Mar 2025] |
MAGEB6P1 Genemelanoma antigen family B6 pseudogene 1 Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC105377206 Gene5E5 antigen-like |
BAGE4 GeneB melanoma antigen family, member 4 Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
BAGE5 GeneB melanoma antigen family, member 5 Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
BAGE2 GeneB melanoma antigen family, member 2 Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
BAGE3 GeneB melanoma antigen family, member 3 Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
ETAA1 GeneEwing tumor-associated antigen 1 Enables protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation of protein serine/threonine kinase activity; regulation of cell cycle phase transition; and replication fork processing. Located in cytosol; nuclear replication fork; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SELP Geneselectin P (granule membrane protein 140kDa, antigen CD62) This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008] |
XAGE1A GeneX antigen family member 1A This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] |
LY6L Genelymphocyte antigen 6 family member L Predicted to be located in side of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LY6S Genelymphocyte antigen 6 family member S Predicted to act upstream of or within response to bacterium. Predicted to be located in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC124906741 Genesperm-associated antigen 11B-like |
LOC124908558 GeneX antigen family member 1-like |