Name

BRCD1 Gene

cancer, familial, with in vitro radioresistance

AAA1 Gene

aortic aneurysm, familial abdominal 1

AAA3 Gene

Aneurysm, familial abdominal 3

AAA2 Gene

Aortic aneurysm, familial abdominal 2

AAA4 Gene

Aortic aneurysm, familial abdominal, 4

ETL6 Gene

Epilepsy, familial temporal lobe, 6

RCM2 Gene

cardiomyopathy, familial restrictive, 2

ATFB8 Gene

Atrial fibrillation, familial, 8

HNFJ3 Gene

Hyperuricemic nephropathy, familial juvenile, 3

GPSC Gene

gliosis, familial progressive subcortical

BHD Gene

Beukes familial hip dysplasia

FAME4 Gene

Epilepsy, familial adult myoclonic, 4

FAME3 Gene

Epilepsy, familial adult myoclonic, 3

PFHB2 Gene

Progressive familial heart block, type II

BFIS1 Gene

benign familial infantile convulsions

HBN1 Gene

Progressive familial heart block, type I, locus 1

ETL2 Gene

epilepsy, familial temporal lobe

FHII Gene

Hyperaldosteronism, familial, type II

FCMTE2 Gene

familial cortical myoclonic tremor with epilepsy 2

FCMTE1 Gene

familial cortical myoclonic tremor with epilepsy 1

GLM4 Gene

Glioma, familial, 1

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

VVS Gene

Syncope, familial vasovagal

BFIS4 Gene

Convulsions, benign familial infantile, 4

ATFB1 Gene

Atrial fibrillation, familial 1

ATFB2 Gene

familial atrial fibrillation 2

SXI2 Gene

X inactivation, familial skewed, 2

BFIC2 Gene

Benign familial infantile convulsions-2

FMTLE Gene

Epilepsy, familial mesial temporal lobe

STUT3 Gene

Stuttering, familial persistent, 3

STUT2 Gene

Stuttering, familial persistent 2

STUT1 Gene

Stuttering, familial persistent 1

STUT4 Gene

Stuttering, familial persistent, 4

MGR2 Gene

Migraine, familial typical, susceptibility to

MGR3 Gene

Migraine, familial, with or without aura, susceptibility to

MFT2 Gene

Trichoepithelioma, multiple familial, 2

FEB9 Gene

Febrile convulsions, familial, 9

ATFB5 Gene

Atrial fibrillation, familial, 5

HTGS Gene

Hypertriglyceridemia, familial

DIP Gene

interstitial pneumonitis, desquamative, familial

CMH21 Gene

Cardiomyopathy, familial hypertrophic, 21

CANDF1 Gene

candidiasis, familial 1

ATPLS Gene

antiphospholipid syndrome, familial

EOS Gene

eosinophilia, familial

FEB10 Gene

Febrile convulsions, familial, 10

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

THCYTX Gene

Thrombocytosis, familial X-linked

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

BPPV Gene

vestibulopathy, familial

AAT2 Gene

Aortic aneurysm, familial thoracic 2

AAT1 Gene

Aortic aneurysm, familial thoracic 1

NKCD Gene

Natural killer cell deficiency, familial isolated

LVCAT8 Gene

liver cancer-associated transcript 8

LVCAT1 Gene

liver cancer-associated transcript 1

DLEC1 Gene

deleted 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]

LOC100291666 Gene

serologically defined breast cancer antigen NY-BR-40

CT45A9 Gene

cancer/testis antigen family 45, member A9

CT45A8 Gene

cancer/testis antigen family 45, member A8

CT45A1 Gene

cancer/testis antigen family 45, member A1

CT45A2 Gene

cancer/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 Gene

cancer/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 Gene

cancer/testis antigen family 45, member A4

CT45A7 Gene

cancer/testis antigen family 45, member A7

CT45A6 Gene

cancer/testis antigen family 45, member A6

GACAT2 Gene

gastric cancer associated transcript 2 (non-protein coding)

GACAT1 Gene

gastric cancer associated transcript 1 (non-protein coding)

LVCAT5 Gene

liver cancer-associated transcript 5

PCAT1 Gene

prostate 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 Gene

prostate cancer associated transcript 2 (non-protein coding)

PCAT4 Gene

prostate cancer associated transcript 4 (non-protein coding)

PCAT7 Gene

prostate cancer associated transcript 7 (non-protein coding)

SCHLAP1 Gene

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

HPCX Gene

hereditary prostate cancer, X-linked

LOC650024 Gene

cancer/testis antigen 55 pseudogene

PRAC2 Gene

prostate 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 Gene

prostate 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]

CT45A3 Gene

cancer/testis antigen family 45, member A3

SDCCAG8 Gene

serologically 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 Gene

serologically 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]

GCRG224 Gene

gastric cancer-related gene GCRG224

HPC5 Gene

prostate cancer, hereditary, 5

HPC4 Gene

Prostate cancer, hereditary, 4

HPC3 Gene

Prostate cancer, hereditary, 3

DRAIC Gene

downregulated RNA in cancer, inhibitor of cell invasion and migration

GACAT3 Gene

gastric cancer associated transcript 3 (non-protein coding)

CT45A11P Gene

cancer/testis antigen family 45, member A11, pseudogene

SNCG Gene

synuclein, 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 Gene

Prostate cancer, hereditary, 7

CT45B1P Gene

cancer/testis antigen family 45, member B1 pseudogene

LOC101059986 Gene

cancer-related nucleoside-triphosphatase pseudogene

CT45A10 Gene

cancer/testis antigen family 45, member A10

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Mar 2025]

PCAT6 Gene

prostate cancer associated transcript 6 (non-protein coding)

CAGE1 Gene

cancer antigen 1

AATBC Gene

apoptosis associated transcript in bladder cancer

HPCQTL19 Gene

Prostate cancer aggressiveness quantitative trait locus on chromosome 19

ORAOV1 Gene

oral 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 Gene

cancer susceptibility candidate 4 pseudogene 1

BCAR1P2 Gene

breast cancer anti-estrogen resistance 1 pseudogene 2

BCAR1P1 Gene

breast cancer anti-estrogen resistance 1 pseudogene 1

SCLC1 Gene

small cell cancer of the lung

CASC2 Gene

cancer 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 Gene

cancer 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 Gene

cancer susceptibility candidate 6 (non-protein coding)

CASC5 Gene

cancer 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 Gene

cancer 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 Gene

cancer susceptibility candidate 8 (non-protein coding)

CTAG1A Gene

cancer/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 Gene

cancer/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]

CASC18 Gene

cancer susceptibility candidate 18 (non-protein coding)

CT55 Gene

cancer/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]

BRCATA Gene

Breast cancer, 11;22 translocation associated

OCR1 Gene

ovarian cancer-related protein 1

SKCG-1 Gene

sporadic kidney cancer gene 1

OVCAS1 Gene

Ovarian cancer, epithelial, susceptibility to

BRCAT54 Gene

breast cancer-associated transcript 54

DEC1 Gene

deleted 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 Gene

prostate cancer-associated 47

GREB1L Gene

growth 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 Gene

Prostate cancer, hereditary, 15

HPC14 Gene

Prostate cancer, hereditary, 14

HPC10 Gene

Prostate cancer, hereditary, 10

ORAOV1P1 Gene

oral cancer overexpressed 1 pseudogene 1

HPC6 Gene

Prostate cancer, susceptibility to

HPC9 Gene

Prostate cancer, hereditary, 9

CASC3 Gene

cancer 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 Gene

cancer susceptibility candidate 7 (non-protein coding)

CASC9 Gene

cancer susceptibility candidate 9 (non-protein coding)

CASC11 Gene

cancer 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 Gene

cancer susceptibility candidate 10

CASC17 Gene

cancer susceptibility candidate 17 (non-protein coding)

CASC16 Gene

cancer susceptibility candidate 16 (non-protein coding)

CASC15 Gene

cancer 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 Gene

cancer susceptibility candidate 19 (non-protein coding)

DLEC1P1 Gene

deleted in lung and esophageal cancer 1 pseudogene 1

VOPP1 Gene

vesicular, 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 Gene

Colorectal cancer, susceptibility to, 10

CRCS11 Gene

Colorectal cancer, susceptibility to, 11

COLCA1 Gene

colorectal 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 Gene

colon 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]

CT83 Gene

cancer/testis antigen 83

Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CTAG2 Gene

cancer/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]

CASC23 Gene

cancer susceptibility candidate 23 (non-protein coding)

UCA1 Gene

urothelial 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 Gene

metastasis 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 Gene

cancer susceptibility candidate 22 (non-protein coding)

CASC20 Gene

cancer susceptibility candidate 20 (non-protein coding)

CASC21 Gene

cancer susceptibility candidate 21 (non-protein coding)

HIC1 Gene

hypermethylated 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 Gene

hypermethylated 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 Gene

suppressor 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 Gene

Colorectal cancer, susceptibility to, 8

CRCS9 Gene

colorectal cancer, susceptibility to, 9

CRCS2 Gene

Colorectal cancer, susceptibility to, 2

CRCS5 Gene

Colorectal cancer, susceptibility to, 5

LNCR1 Gene

Lung cancer 1

LOC727838 Gene

cancer/testis antigen family 47, member A11 pseudogene

BRCA1 Gene

breast 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 Gene

breast cancer 3

BRCA2 Gene

breast 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 Gene

prostate 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]

SDCCAG3P2 Gene

serologically defined colon cancer antigen 3 pseudogene 2

SDCCAG3P1 Gene

serologically defined colon cancer antigen 3 pseudogene 1

BRMS1L Gene

breast 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]

LNCR3 Gene

Lung cancer susceptibility 3

LNCR4 Gene

Lung cancer susceptibility 4

LNCR5 Gene

Lung cancer susceptibility 5

HPCX2 Gene

Prostate cancer, hereditary, X-linked 2

CCAT1 Gene

colon 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 Gene

prostate 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]

CT62 Gene

cancer/testis antigen 62

CT47A7 Gene

cancer/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 Gene

cancer/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 Gene

cancer/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 Gene

cancer/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 Gene

cancer/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 Gene

cancer/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 Gene

cancer/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]

GAEC1 Gene

gene amplified in esophageal cancer 1

THCAT158 Gene

thyroid cancer-associated transcript 158

PCAP Gene

predisposing for prostate cancer

PCA3 Gene

prostate 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 Gene

Breast cancer-related regulator of TP53

FALEC Gene

focally amplified long non-coding RNA in epithelial cancer

BREA2 Gene

breast cancer estrogen-induced apoptosis 2

LOC100288160 Gene

esophagus cancer-related gene-2 interaction susceptibility protein

LDOC1 Gene

leucine 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 Gene

colorectal cancer, susceptibility to, 6

BCAR4 Gene

breast 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 Gene

breast 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 Gene

breast 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]

CT47B1 Gene

cancer/testis antigen family 47, member B1

BLACAT1 Gene

bladder cancer associated transcript 1 (non-protein coding)

LUCAT1 Gene

lung cancer associated transcript 1 (non-protein coding)

LOC728470 Gene

cancer/testis antigen 55 pseudogene

CT47A6 Gene

cancer/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 Gene

cancer/testis antigen family 47, member A5

PCAT19 Gene

prostate cancer associated transcript 19 (non-protein coding)

PCAT18 Gene

prostate 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 Gene

prostate cancer associated transcript 14 (non-protein coding)

LOC729086 Gene

vesicular, overexpressed in cancer, prosurvival protein 1 pseudogene

BRCAT107 Gene

breast cancer-associated transcript 107

GREB1 Gene

growth 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 Gene

thyroid cancer-associated transcript 126

LOC440934 Gene

cancer/testis antigen 75

PRNCR1 Gene

prostate cancer associated non-coding RNA 1

LDOC1L Gene

leucine zipper, down-regulated in cancer 1-like

NTPCR Gene

nucleoside-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 Gene

breast 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 Gene

colorectal 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]

LOC100506955 Gene

cancer/testis antigen 83 pseudogene

CRCS7 Gene

colorectal cancer, susceptibility to, 7

BLCAP Gene

bladder 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]

CT47A12 Gene

cancer/testis antigen family 47, member A12

CT47A11 Gene

cancer/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 Gene

cancer/testis antigen family 47, member A10

SCAT2 Gene

S-phase cancer associated transcript 2

SCAT8 Gene

S-phase cancer associated transcript 8

LNC-LBCS Gene

lncRNA bladder and prostate cancer suppressor, hnRNPK interacting

CT47C1 Gene

cancer/testis antigen family 47 member C1