Harmonizome 3.0

basal cell adhesion molecule (ong>Lutheranong> blood group)

This gene encodes ong>Lutheranong> blood group glycoprotein, a member ong>ofong> the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion ong>ofong> red blood cells in sickle cell disease. Polymorphisms in this gene define some ong>ofong> the ong>antigenong>s in the ong>Lutheranong> system and also the Auberger system. Inactivating variants ong>ofong> this gene result in the recessive ong>Lutheranong> null phenotype, Lu(a-b-), ong>ofong> the ong>Lutheranong> blood group. Two transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, May 2012]

Tuberculin skin test reactivity, ong>absenceong> ong>ofong>

epilepsy, childhood ong>absenceong> 1

integrin, alpha L (ong>antigenong> CD11A (p180), lymphocyte function-associated ong>antigenong> 1; alpha polypeptide)

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed ong>ofong> 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 ong>antigenong>-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 isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

integrin, alpha E (ong>antigenong> CD103, human mucosal lymphocyte ong>antigenong> 1; alpha polypeptide)

Integrins are heterodimeric integral membrane proteins composed ong>ofong> 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 ong>antigenong>. 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]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 6 (non-specific cross reacting ong>antigenong>)

This gene encodes a protein that belongs to the carcinoembryonic ong>antigenong> (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members ong>ofong> this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations ong>ofong> carcinoma. This gene affects the sensitivity ong>ofong> tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface ong>ofong> ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes ong>ofong> the cell adhesion molecules subgroup ong>ofong> the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]

integrin, alpha 3 (ong>antigenong> CD49C, alpha 3 subunit ong>ofong> VLA-3 receptor)

The gene encodes a member ong>ofong> the integrin alpha chain family ong>ofong> proteins. Integrins are heterodimeric integral membrane proteins composed ong>ofong> 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 ong>ofong> the laminin family. Expression ong>ofong> this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]

integrin, alpha 4 (ong>antigenong> CD49D, alpha 4 subunit ong>ofong> VLA-4 receptor)

The gene encodes a member ong>ofong> the integrin alpha chain family ong>ofong> proteins. Integrins are heterodimeric integral membrane proteins composed ong>ofong> 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 ong>ofong> multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

G ong>antigenong> 12C

sarcoma ong>antigenong> 1

This gene belongs to a class ong>ofong> genes that are activated in tumors. These genes are expressed in tumors ong>ofong> 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 ong>ofong> ong>antigenong>s for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]

integrin, alpha 2b (platelet glycoprotein IIb ong>ofong> IIb/IIIa complex, ong>antigenong> CD41)

This gene encodes a member ong>ofong> the integrin alpha chain family ong>ofong> proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit ong>ofong> 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 ong>ofong> platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]

lymphocyte ong>antigenong> 6 complex, locus G6C

LY6G6C belongs to a cluster ong>ofong> leukocyte ong>antigenong>-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members ong>ofong> 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]

lymphocyte ong>antigenong> 6 complex, locus G6E (pseudogene)

LY6G6E belongs to a cluster ong>ofong> leukocyte ong>antigenong>-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members ong>ofong> 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]

serologically defined breast cancer ong>antigenong> NY-BR-40

cancer/testis ong>antigenong> family 45, member A9

cancer/testis ong>antigenong> family 45, member A8

cancer/testis ong>antigenong> family 45, member A1

cancer/testis ong>antigenong> family 45, member A2

This gene represents one ong>ofong> a cluster ong>ofong> several similar genes located on the q arm ong>ofong> chromosome X. The genes in this cluster encode members ong>ofong> the cancer/testis (CT) family ong>ofong> ong>antigenong>s, and are distinct from other CT ong>antigenong>s. These ong>antigenong>s are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, Apr 2014]

cancer/testis ong>antigenong> family 45, member A5

This gene represents one ong>ofong> a cluster ong>ofong> several similar genes located on the q arm ong>ofong> chromosome X. The genes in this cluster encode members ong>ofong> the cancer/testis (CT) family ong>ofong> ong>antigenong>s, and are distinct from other CT ong>antigenong>s. These ong>antigenong>s are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

cancer/testis ong>antigenong> family 45, member A4

cancer/testis ong>antigenong> family 45, member A7

cancer/testis ong>antigenong> family 45, member A6

hepatocellular carcinoma-associated ong>antigenong> HCA25a

melanoma ong>antigenong> family H1

This gene belongs to the non-CT (non cancer/testis) subgroup ong>ofong> the melanoma-associated ong>antigenong> (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 ong>ofong> transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013]

proliferating cell nuclear ong>antigenong>

The protein encoded by this gene is found in the nucleus and is a cong>ofong>actor ong>ofong> DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity ong>ofong> 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 ong>ofong> this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

G ong>antigenong> 1

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic 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 ong>ofong> this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

G ong>antigenong> 3

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

G ong>antigenong> 5

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

G ong>antigenong> 4

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

G ong>antigenong> 6

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family L2

Prader-Willi syndrome (PWS) is caused by the loss ong>ofong> expression ong>ofong> 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 ong>ofong> neurons, localizes to this region ong>ofong> the genome and has been implicated as one ong>ofong> the genes responsible for the etiology ong>ofong> 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]

lymphocyte ong>antigenong> 6 complex, locus G6D

LY6G6D belongs to a cluster ong>ofong> leukocyte ong>antigenong>-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members ong>ofong> 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]

cancer/testis ong>antigenong> 55 pseudogene

myeloid cell nuclear differentiation ong>antigenong>

The myeloid cell nuclear differentiation ong>antigenong> (MNDA) is detected only in nuclei ong>ofong> cells ong>ofong> the granulocyte-monocyte lineage. A 200-amino acid region ong>ofong> human MNDA is strikingly similar to a region in the proteins encoded by a family ong>ofong> 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 ong>ofong> FCER1A, APCS, CRP, and SPTA1. In its pattern ong>ofong> expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]

proliferating cell nuclear ong>antigenong> pseudogene 1

proliferating cell nuclear ong>antigenong> pseudogene 4

cancer/testis ong>antigenong> family 45, member A3

serologically defined colon cancer ong>antigenong> 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]

serologically defined colon cancer ong>antigenong> 3

Involved in several processes, including endocytic recycling; positive regulation ong>ofong> cilium assembly; and positive regulation ong>ofong> protein localization to cilium. Located in several cellular components, including endosome; microtubule organizing center; and retromer complex. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

novel prostate-specific ong>antigenong>

P ong>antigenong> family, member 5 (prostate associated)

This gene is a member ong>ofong> family ong>ofong> proteins that are expressed in a variety ong>ofong> 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 isong>ofong>orms have been found. [provided by RefSeq, Jan 2015]

lymphocyte ong>antigenong> 9

LY9 belongs to the SLAM family ong>ofong> 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]

surface ong>antigenong> (chromosome 7) 2

melanoma ong>antigenong> family D4B

This gene is a member ong>ofong> the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants ong>ofong> 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 isong>ofong>orms have been described for this gene. [provided by RefSeq, May 2011]

melanoma ong>antigenong> family A4 pseudogene

histocompatibility ong>antigenong>-related

integrin, beta 1 (fibronectin receptor, beta polypeptide, ong>antigenong> CD29 includes MDF2, MSK12)

Integrins are heterodimeric proteins made up ong>ofong> 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 ong>ofong> processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion ong>ofong> tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

integrin, beta 3 (platelet glycoprotein IIIa, ong>antigenong> CD61)

The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed ong>ofong> 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]

lymphocyte ong>antigenong> 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 ong>ofong> the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isong>ofong>orms. [provided by RefSeq, Sep 2010]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene

melanoma ong>antigenong> family A7, pseudogene

Sjogren syndrome ong>antigenong> B (autoong>antigenong> La)

The protein encoded by this gene is involved in diverse aspects ong>ofong> RNA metabolism, including binding and protecting poly(U) termini ong>ofong> nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends ong>ofong> 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 ong>ofong> 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]

cancer/testis ong>antigenong> family 45, member A11, pseudogene

cancer/testis ong>antigenong> family 45, member B1 pseudogene

G ong>antigenong> 13

ong>antigenong> identified by monoclonal antibody K66

ong>antigenong> identified by monoclonal antibody O5

cancer/testis ong>antigenong> family 45, member A10

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

Xm(a) ong>antigenong>

G ong>antigenong> 8

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

Minor histocompatibility ong>antigenong> HA-2

cancer ong>antigenong> 1

melanoma ong>antigenong> family E2

This gene encodes a member ong>ofong> the E subfamily ong>ofong> MAGE (melanoma ong>antigenong>-encoding gene) gene family. The gene is intronless and the encoded protein has two ong>ofong> the MAGE domains which are characteristic ong>ofong> MAGE family proteins. [provided by RefSeq, Sep 2011]

melanoma ong>antigenong> family E1

This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated ong>antigenong>) protein, which is a member ong>ofong> 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]

P ong>antigenong> family, member 4 (prostate associated)

This gene is a member ong>ofong> the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> CT (cancer-testis) ong>antigenong>s. 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]

P ong>antigenong> family, member 2 (prostate associated)

P ong>antigenong> family, member 3 (prostate associated)

This gene is a member ong>ofong> family ong>ofong> proteins that are expressed in a variety ong>ofong> tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015]

P ong>antigenong> family, member 1 (prostate associated)

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an ong>antigenong>ic peptide. Nothing is presently known about the function ong>ofong> this protein. [provided by RefSeq, Jul 2008]

LIM and senescent cell ong>antigenong>-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 ong>ofong> Genome Resources, Mar 2025]

early endosome ong>antigenong> 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 ong>ofong> Genome Resources, Mar 2025]

lymphocyte ong>antigenong> 6A-2/6E-1-like

Predicted to be located in side ong>ofong> membrane. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

HLA class II histocompatibility ong>antigenong>-like

cutaneous T-cell lymphoma-associated ong>antigenong> 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 ong>ofong> Genome Resources, Mar 2025]

cancer/testis ong>antigenong> 1A

The protein encoded by this gene is a tumor cell ong>antigenong> found in various types ong>ofong> 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 ong>ofong> this gene is found on the same chromosome. [provided by RefSeq, Dec 2015]

cancer/testis ong>antigenong> 1B

The protein encoded by this gene is an ong>antigenong> that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region ong>ofong> the X-chromosome and therefore has a neighboring gene ong>ofong> identical sequence. [provided by RefSeq, Jan 2012]

DLA class II histocompatibility ong>antigenong>, DR-1 beta chain-like

melanoma ong>antigenong> family B3 pseudogene

melanoma ong>antigenong> family B4 pseudogene

cancer/testis ong>antigenong> 55

Involved in spermatogenesis. Located in acrosomal vesicle and sperm flagellum. Implicated in X-linked spermatogenic failure 7. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma associated ong>antigenong> (mutated) 1-like 1 pseudogene

G ong>antigenong> 10

melanoma ong>antigenong> family A, 12 pseudogene

melanoma ong>antigenong> family A2B

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A10 pseudogene

melanoma ong>antigenong> family A11 pseudogene

melanoma ong>antigenong> family F1

This intronless gene encodes a member ong>ofong> 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]

L ong>antigenong> family, member 3

This gene belongs to the ESO/LAGE gene family, members ong>ofong> 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 ong>ofong> 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]

sperm associated ong>antigenong> 11B

This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions ong>ofong> these proteins have not been determined, but they are thought to be involved in sperm maturation. Some ong>ofong> the isong>ofong>orms contain regions ong>ofong> similarity to beta-defensins, a family ong>ofong> antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing ong>ofong> this gene results in seven transcript variants encoding different isong>ofong>orms. 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]

sperm associated ong>antigenong> 11A

Involved in antimicrobial humoral immune response mediated by antimicrobial peptide. Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma ong>antigenong> family A11

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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 isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

lymphocyte ong>antigenong> 75

Predicted to enable signaling receptor activity. Predicted to be involved in immune response and inflammatory response. Located in extracellular exosome. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

carcinoembryonic ong>antigenong>-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 ong>ofong> Genome Resources, Mar 2025]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 18

carcinoembryonic ong>antigenong>-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 ong>ofong> non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

melanoma ong>antigenong> family B17

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

protein transactivated by hepatitis B virus E ong>antigenong>

myasthenic (Lambert-Eaton) syndrome ong>antigenong> A

MYC induced nuclear ong>antigenong>

MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation ong>ofong> cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]

sperm specific ong>antigenong> 2

Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

X ong>antigenong> family, member 1B

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. Alternative splicing ong>ofong> this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]

X ong>antigenong> family, member 1E

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. Alternative splicing ong>ofong> this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]

B melanoma ong>antigenong>

This gene encodes a tumor ong>antigenong> recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008]

Sjogren syndrome ong>antigenong> B pseudogene

preferentially expressed ong>antigenong> in melanoma

This gene encodes an ong>antigenong> 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 ong>ofong> 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]

sperm ong>antigenong> 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 ong>ofong> juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isong>ofong>orms have been described for this gene. [provided by RefSeq, Aug 2011]

LIM and senescent cell ong>antigenong>-like domains 2

This gene encodes a member ong>ofong> a small family ong>ofong> 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 ong>ofong> this gene is located on chromosome 4. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

LIM and senescent cell ong>antigenong>-like domains 3

Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

LIM and senescent cell ong>antigenong>-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 ong>ofong> spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2010]

ong>antigenong> identified by monoclonal antibody 30.2A8

SP100 nuclear ong>antigenong>

This gene encodes a subnuclear organelle and major component ong>ofong> 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 ong>ofong> which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]

P ong>antigenong> family, member 2B

melanoma ong>antigenong> family A9B

MAGEA9B is a duplication ong>ofong> the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]

adhesion molecule, interacts with CXADR ong>antigenong> 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 ong>ofong> Genome Resources, Mar 2025]

meningioma expressed ong>antigenong> 5 (hyaluronidase)

The dynamic modification ong>ofong> 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]

pre T-cell ong>antigenong> 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 isong>ofong>orms have been found for this gene.[provided by RefSeq, Jul 2011]

F9 embryonic ong>antigenong>

P ong>antigenong> family, member 4 (prostate associated) pseudogene

lymphocyte ong>antigenong> 6 complex, locus G5C

LY6G5C belongs to a cluster ong>ofong> leukocyte ong>antigenong>-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members ong>ofong> 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]

lymphocyte ong>antigenong> 6 complex, locus G5B

LY6G5B belongs to a cluster ong>ofong> leukocyte ong>antigenong>-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members ong>ofong> 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]

melanoma ong>antigenong> 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]

melanoma ong>antigenong> family A10

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>antigenong> family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]

stromal ong>antigenong> 3-like 4 (pseudogene)

stromal ong>antigenong> 3-like 3 (pseudogene)

Predicted to be located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

stromal ong>antigenong> 3-like 2 (pseudogene)

Predicted to be located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

stromal ong>antigenong> 3-like 1 (pseudogene)

Predicted to be located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

putative paraneoplastic ong>antigenong>-like protein 6B-like protein LOC649238

Thy-1 cell surface ong>antigenong>

This gene encodes a cell surface glycoprotein and member ong>ofong> the immunoglobulin superfamily ong>ofong> proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells ong>ofong> 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]

Leukocyte ong>antigenong> group 5

carcinoembryonic ong>antigenong>-related cell adhesion molecule 20

Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation ong>ofong> 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 ong>ofong> Genome Resources, Mar 2025]

carcinoembryonic ong>antigenong>-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 ong>ofong> plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma ong>antigenong> family C1

This gene is a member ong>ofong> the melanoma ong>antigenong> gene (MAGE) family. The proteins ong>ofong> this family are tumor-specific ong>antigenong>s that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number ong>ofong> unique short repetitive sequences in front ong>ofong> the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family C3

This gene is a member ong>ofong> the MAGEC gene family. The members ong>ofong> this family are not expressed in normal tissues, except for testis, and are expressed in tumors ong>ofong> various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family C2

This gene is a member ong>ofong> the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors ong>ofong> various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]

cancer/testis ong>antigenong> 83

Located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

stromal ong>antigenong> 2

The protein encoded by this gene is a subunit ong>ofong> the cohesin complex, which regulates the separation ong>ofong> sister chromatids during cell division. Targeted inactivation ong>ofong> this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption ong>ofong> cohesin is a cause ong>ofong> aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Sep 2013]

stromal ong>antigenong> 1

This gene is a member ong>ofong> the SCC3 family and is expressed in the nucleus. It encodes a component ong>ofong> cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length ong>ofong> 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]

proliferating cell nuclear ong>antigenong> pseudogene 2

surface ong>antigenong> (X-linked) 3

surface ong>antigenong> (X-linked) 2

estrogen receptor binding site associated, ong>antigenong>, 9 pseudogene 1

cancer/testis ong>antigenong> 2

This gene encodes an autoimmunogenic tumor ong>antigenong> that belongs to the ESO/LAGE family ong>ofong> cancer-testis ong>antigenong>s. This protein is expressed in a wide array ong>ofong> 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 ong>ofong> this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor ong>antigenong> that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

G ong>antigenong> 7

ong>antigenong> identified by monoclonal antibody 28.3.7

melanoma ong>antigenong> family A10 pseudogene

melanoma associated ong>antigenong> (mutated) 1

Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma ong>antigenong> family E1 pseudogene

GATS, stromal ong>antigenong> 3 opposite strand

Predicted to be involved in cellular response to L-arginine and negative regulation ong>ofong> TORC1 signaling. Predicted to be active in cytosol. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

folate hydrolase (prostate-specific membrane ong>antigenong>) 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 ong>ofong> tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption ong>ofong> dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression ong>ofong> this protein in the brain may be involved in a number ong>ofong> 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 ong>ofong> prostate cancer. This gene likely arose from a duplication event ong>ofong> a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isong>ofong>orms. [provided by RefSeq, Jul 2010]

X ong>antigenong> family, member 5

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. [provided by RefSeq, Jul 2008]

X ong>antigenong> family, member 3

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. Alternative splicing ong>ofong> this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family C3 pseudogene

sperm associated ong>antigenong> 8

The correlation ong>ofong> anti-sperm antibodies with cases ong>ofong> unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment ong>ofong> immunologic infertility, as well as identification ong>ofong> proteins for targeted contraception, are dependent on the identification and characterization ong>ofong> relevant sperm ong>antigenong>s. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells ong>ofong> the testis at all stages ong>ofong> spermatogenesis and is localized to the acrosomal region ong>ofong> mature spermatozoa. This protein interacts with ACT (activator ong>ofong> 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 isong>ofong>orms have been described but the full-length sequences ong>ofong> only two have been determined. [provided by RefSeq, Jul 2012]

sperm associated ong>antigenong> 9

This gene encodes a member ong>ofong> the cancer testis ong>antigenong> 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]

sperm associated ong>antigenong> 6

The correlation ong>ofong> anti-sperm antibodies with cases ong>ofong> unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment ong>ofong> immunologic infertility, as well as identification ong>ofong> proteins for targeted contraception, are dependent on the identification and characterization ong>ofong> relevant sperm ong>antigenong>s. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail ong>ofong> 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 ong>ofong> the structural integrity ong>ofong> mature sperm. Several transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Dec 2011]

sperm associated ong>antigenong> 5

This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation ong>ofong> mitotic spindles. [provided by RefSeq, Jul 2008]

sperm associated ong>antigenong> 1

The correlation ong>ofong> anti-sperm antibodies with cases ong>ofong> unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment ong>ofong> immunologic infertility, as well as identification ong>ofong> proteins for targeted contraception, are dependent on the identification and characterization ong>ofong> relevant sperm ong>antigenong>s. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization ong>ofong> female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane ong>ofong> germ cells in the testis and to the post-acrosomal plasma membrane ong>ofong> 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 ong>ofong> this gene encode the same protein. [provided by RefSeq, Jul 2008]

six transmembrane epithelial ong>antigenong> ong>ofong> 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 ong>antigenong> significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]

melanoma-associated ong>antigenong> C1-like

melanoma ong>antigenong> family C2 pseudogene

neuro-oncological ventral ong>antigenong> 2

Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation ong>ofong> alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

neuro-oncological ventral ong>antigenong> 1

This gene encodes a neuron-specific RNA-binding protein, a member ong>ofong> the Nova family ong>ofong> paraneoplastic disease ong>antigenong>s, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera ong>ofong> patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isong>ofong>orms have been described. [provided by RefSeq, Jul 2008]

Rh blood group, D ong>antigenong>

The Rh blood group system is the second most clinically significant ong>ofong> the blood groups, second only to ABO. It is also the most polymorphic ong>ofong> 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 ong>antigenong>s on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification ong>ofong> Rh-positive and Rh-negative individuals is determined by the presence or ong>absenceong> ong>ofong> the highly immunogenic RhD protein on the surface ong>ofong> erythrocytes. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

fertility associated sperm ong>antigenong>

X ong>antigenong> family, member 3 pseudogene

cancer/testis ong>antigenong> family 47, member A11 pseudogene

melanoma ong>antigenong> family D1

This gene is a member ong>ofong> the melanoma ong>antigenong> gene (MAGE) family. Most ong>ofong> the genes ong>ofong> this family encode tumor specific ong>antigenong>s that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members ong>ofong> 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 isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family D2

This gene is a member ong>ofong> 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 ong>ofong> transient antenatal Bartter's syndrome. This gene may also be involved in several types ong>ofong> 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]

melanoma ong>antigenong> family D4

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

G ong>antigenong> 12H

G ong>antigenong> 12I

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

G ong>antigenong> 12J

G ong>antigenong> 12B

G ong>antigenong> 12D

G ong>antigenong> 12E

G ong>antigenong> 12F

G ong>antigenong> 12G

stromal ong>antigenong> 3-like 5 pseudogene

serologically defined colon cancer ong>antigenong> 3 pseudogene 2

serologically defined colon cancer ong>antigenong> 3 pseudogene 1

prostate stem cell ong>antigenong>

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 ong>ofong> prostate cancers and is also detected in cancers ong>ofong> 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]

Immune suppression to streptococcal ong>antigenong>

X ong>antigenong> family member 3-like

DLA class II histocompatibility ong>antigenong>, DR-1 beta chain-like

lymphocyte ong>antigenong> 6 complex, locus G6F

The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised ong>ofong> cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]

male-enhanced ong>antigenong> 1

Predicted to be involved in male gonad development and spermatogenesis. Predicted to be located in cytoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

sperm ong>antigenong> with calponin homology and coiled-coil domains 1 pseudogene

DLA class II histocompatibility ong>antigenong>, DR-1 beta chain-like

sperm ong>antigenong> 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 ong>ofong> oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isong>ofong>orms have been observed for this gene. A read-through transcript composed ong>ofong> SPECC1L (sperm ong>antigenong> 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 ong>antigenong>

stromal ong>antigenong> 3

The protein encoded by this gene is expressed in the nucleus and is a subunit ong>ofong> the cohesin complex which regulates the cohesion ong>ofong> 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 isong>ofong>orms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

kidney associated ong>antigenong> 1

Predicted to be involved in immune response. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

cancer/testis ong>antigenong> 62

myeloproliferative disease associated tumor ong>antigenong> 5

cancer/testis ong>antigenong> family 47, member A7

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A4

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A3

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A2

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A1

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. This locus is the most telomeric ong>ofong> the cluster.[provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A9

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A8

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

melanoma ong>antigenong> family A10 pseudogene

melanoma ong>antigenong> family A10 pseudogene

CDw93 ong>antigenong>

paraneoplastic ong>antigenong> like 6A-like

cutaneous T-cell lymphoma-associated ong>antigenong> 1 pseudogene

LIM and senescent cell ong>antigenong>-like domains 2 pseudogene

squamous cell carcinoma ong>antigenong> recognized by T cells

This gene encodes two proteins, the SART1(800) protein expressed in the nucleus ong>ofong> the majority ong>ofong> proliferating cells, and the SART1(259) protein expressed in the cytosol ong>ofong> epithelial cancers. The SART1(259) protein is translated by the mechanism ong>ofong> -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 ong>ofong> proliferation. Both proteins have tumor-rejection ong>antigenong>s. The SART1(259) protein possesses tumor epitopes capable ong>ofong> inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) ong>antigenong> may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment ong>ofong> patients with atopy. The SART1(259) protein is found to be essential for the recruitment ong>ofong> the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family A11 pseudogene

melanoma ong>antigenong> family B18 pseudogene

melanoma ong>antigenong> family B16 pseudogene

P ong>antigenong> family, member 5 (prostate associated) pseudogene

estrogen receptor binding site associated, ong>antigenong>, 9

This gene was identified as an estrogen-responsive gene. Regulation ong>ofong> transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region ong>ofong> this gene. The encoded protein is a tumor-associated ong>antigenong> that is expressed at high frequency in a variety ong>ofong> cancers. Alternate splicing results in multiple transcript variants. A pseudogene ong>ofong> this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]

DLA class II histocompatibility ong>antigenong>, DR-1 beta chain-like

paraneoplastic Ma ong>antigenong> 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 ong>ofong> the antineuronal antibodies in the sera ong>ofong> these patients has facilitated the diagnosis ong>ofong> paraneoplastic neurological disorders and the early detection ong>ofong> the associated tumors. [provided by RefSeq, Feb 2014]

paraneoplastic Ma ong>antigenong> 3

The protein encoded by this gene belongs to the paraneoplastic ong>antigenong> MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA ong>antigenong>s are highly expressed in the brain and also in a range ong>ofong> tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence ong>ofong> a functional -1 ribosomal frameshift signal (consisting ong>ofong> 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 isong>ofong>orms have been found for this gene. [provided by RefSeq, Sep 2013]

paraneoplastic Ma ong>antigenong> 2

Predicted to be involved in positive regulation ong>ofong> apoptotic process. Predicted to be located in nucleolus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

paraneoplastic Ma ong>antigenong> family member 5

This gene encodes a member ong>ofong> the paraneoplastic Ma ong>antigenong> protein family. These proteins have been implicated in the development ong>ofong> paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result ong>ofong> an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]

tubulointerstitial nephritis ong>antigenong>-like 1

The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis ong>antigenong>, a secreted glycoprotein that is recognized by antibodies in some types ong>ofong> immune-related tubulointerstitial nephritis. Three transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Feb 2011]

melanoma ong>antigenong> pseudogene

paraneoplastic Ma ong>antigenong> family member 6A

paraneoplastic Ma ong>antigenong> family member 6B (pseudogene)

CD165 ong>antigenong>

melanoma ong>antigenong> family A9

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A8

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A3

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A2

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A1

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A6

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

melanoma ong>antigenong> family A5

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>antigenong> family A, 10 (MAGEA10) gene. [provided by RefSeq, Dec 2020]

melanoma ong>antigenong> family A4

This gene is a member ong>ofong> the MAGEA gene family. The members ong>ofong> this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons ong>ofong> the MAGEA genes show considerable variability, suggesting that the existence ong>ofong> 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]

sarcoma ong>antigenong> 2, pseudogene

Predicted to be involved in snRNA 3'-end processing. Predicted to be part ong>ofong> integrator complex. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

G ong>antigenong> 2D

melanoma ong>antigenong> family B18

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma ong>antigenong> family B10

This gene encodes a member ong>ofong> the B subfamily ong>ofong> the melanoma associated ong>antigenong> protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010]

melanoma ong>antigenong> family B16

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

G ong>antigenong> 2D-like

cutaneous T-cell lymphoma-associated ong>antigenong> 1 pseudogene

FOS-like ong>antigenong> 1 pseudogene 1

melanoma ong>antigenong> family C, 3 pseudogene

melanoma ong>antigenong> family B3 pseudogene

cancer/testis ong>antigenong> family 47, member B1

paraneoplastic Ma ong>antigenong> family-like 2

paraneoplastic Ma ong>antigenong> family-like 1

lymphocyte ong>antigenong> 86

Acts upstream ong>ofong> or within positive regulation ong>ofong> lipopolysaccharide-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

collagen, type IV, alpha 3 (Goodpasture ong>antigenong>)

Type IV collagen, the major structural component ong>ofong> basement membranes, is a multimeric protein composed ong>ofong> 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each ong>ofong> 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 ong>ofong> alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain ong>ofong> the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression ong>ofong> this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form ong>ofong> Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members ong>ofong> 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]

putative paraneoplastic ong>antigenong>-like protein 6B-like

cutaneous T-cell lymphoma-associated ong>antigenong> 1 pseudogene

sperm associated ong>antigenong> 16

Cilia and flagella are comprised ong>ofong> 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 ong>ofong> sperm tail and the nucleus ong>ofong> postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]

sperm associated ong>antigenong> 17

This gene encodes a central pair protein present in the axonemes ong>ofong> cells with a `9 + 2` organization ong>ofong> microtubules. The encoded protein is required for the proper function ong>ofong> the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance ong>ofong> nasal mucus, prong>ofong>ound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours ong>ofong> 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]

melanoma ong>antigenong> family A4 pseudogene

cancer/testis ong>antigenong> 55 pseudogene

cancer/testis ong>antigenong> family 47, member A6

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A5

ong>antigenong> identified by monoclonal antibody 2D8

G ong>antigenong> 2E

G ong>antigenong> 2A

G ong>antigenong> 2B

G ong>antigenong> 2C

This gene belongs to a family ong>ofong> genes that are expressed in a variety ong>ofong> tumors but not in normal tissues, except for the testis. The sequences ong>ofong> the family members are highly related but differ by scattered nucleotide substitutions. The ong>antigenong>ic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]

ong>antigenong> identified by monoclonal antibody K15

CD139 ong>antigenong>

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 10

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 11

melanoma associated ong>antigenong> (mutated) 1-like 1

This gene encodes a protein which contains a mutated melanoma-associated ong>antigenong> 1 domain. Proteins which contain mutated ong>antigenong>s are expressed at high levels on certain types ong>ofong> cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

L ong>antigenong> family, member 3 pseudogene 1

melanoma ong>antigenong> family B2

This gene is a member ong>ofong> the MAGEB gene family. The members ong>ofong> 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 ong>ofong> the MAGEB genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>ofong> tumors ong>ofong> various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family B3

This gene is a MAGE-B subfamily member ong>ofong> the MAGE gene family. MAGE family member proteins direct the expression ong>ofong> tumor ong>antigenong>s recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters ong>ofong> MAGE genes on chromosome X. The members ong>ofong> the MAGE-A subfamily are located in the Xq28 region, while the members ong>ofong> the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family B1

This gene is a member ong>ofong> the MAGEB gene family. The members ong>ofong> 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 ong>ofong> the MAGEB genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>ofong> tumors ong>ofong> 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 ong>ofong> some variants has not been defined. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family B6

This gene is a member ong>ofong> the MAGEB gene family. The members ong>ofong> 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 ong>ofong> the MAGEB genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>ofong> tumors ong>ofong> various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family B4

This gene is a member ong>ofong> the MAGEB gene family. The members ong>ofong> 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 ong>ofong> the MAGEB genes show considerable variability, suggesting that the existence ong>ofong> 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 ong>ofong> MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008]

melanoma ong>antigenong> family B5

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

FOS-like ong>antigenong> 1

The Fos gene family consists ong>ofong> 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins ong>ofong> the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators ong>ofong> cell proliferation, differentiation, and transformation. Several transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2014]

FOS-like ong>antigenong> 2

The Fos gene family consists ong>ofong> 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins ong>ofong> the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators ong>ofong> cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 8

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 9

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 2

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 3

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 1

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 6

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 7

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 4

carcinoembryonic ong>antigenong>-related cell adhesion molecule pseudogene 5

proliferating cell nuclear ong>antigenong> pseudogene 3

collagen, type IV, alpha 3 (Goodpasture ong>antigenong>) binding protein

This gene encodes a kinase that specifically phosphorylates the N-terminal region ong>ofong> the non-collagenous domain ong>ofong> the alpha 3 chain ong>ofong> type IV collagen, known as the Goodpasture ong>antigenong>. Goodpasture disease is the result ong>ofong> an autoimmune response directed at this ong>antigenong>. One isong>ofong>orm ong>ofong> this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

tissue specific transplantation ong>antigenong> P35B

Tissue specific transplantation ong>antigenong> 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 ong>ofong> several fucosyltransferases involved in the expression ong>ofong> many glycoconjugates, including blood group ABH ong>antigenong>s and developmental adhesion ong>antigenong>s. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 22, pseudogene

Sjogren syndrome ong>antigenong> B (autoong>antigenong> La) pseudogene

melanoma ong>antigenong> family B18 pseudogene

T-cell activation ong>antigenong> p250

melanoma ong>antigenong> family B3 pseudogene

melanoma ong>antigenong> family C3 pseudogene

squamous cell carcinoma ong>antigenong> recognized by T cells 3

The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection ong>antigenong>. This ong>antigenong> possesses tumor epitopes capable ong>ofong> 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 ong>ofong> the spliceosome cycle. This encoded protein is thought to be involved in the regulation ong>ofong> mRNA splicing. [provided by RefSeq, Jul 2008]

DLA class II histocompatibility ong>antigenong>, DR-1 beta chain-like

cancer/testis ong>antigenong> 75

X ong>antigenong> family, member 2

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. [provided by RefSeq, Jul 2008]

melanoma associated ong>antigenong> (mutated) 1-like 1 pseudogene

Sjogren syndrome ong>antigenong> B (autoong>antigenong> La) pseudogene

sperm associated ong>antigenong> 7

Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

sperm associated ong>antigenong> 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 ong>ofong> 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 ong>ofong> the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isong>ofong>orms. [provided by RefSeq, Dec 2015]

ong>antigenong> identified by monoclonal antibody AJ425

necdin, melanoma ong>antigenong> (MAGE) family member pseudogene

tubulointerstitial nephritis ong>antigenong>

This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium ong>ofong> Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera ong>ofong> patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression ong>ofong> this ong>antigenong> is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]

melanoma ong>antigenong> family A13, pseudogene

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

5E5 ong>antigenong>-like

necdin, melanoma ong>antigenong> (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]

HLA class II histocompatibility ong>antigenong>, DRB1-7 beta chain

bone marrow stromal cell ong>antigenong> 1

Bone marrow stromal cell ong>antigenong>-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]

bone marrow stromal cell ong>antigenong> 2

Bone marrow stromal cells are involved in the growth and development ong>ofong> B-cells. The specific function ong>ofong> the protein encoded by the bone marrow stromal cell ong>antigenong> 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]

lymphocyte ong>antigenong> 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 ong>ofong> viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2021]

lymphocyte ong>antigenong> 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 ong>ofong> Genome Resources, Mar 2025]

lymphocyte ong>antigenong> 6 complex, locus K

Predicted to be involved in binding activity ong>ofong> sperm to zona pellucida. Predicted to act upstream ong>ofong> 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 ong>ofong> Genome Resources, Mar 2025]

lymphocyte ong>antigenong> 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 ong>ofong> Genome Resources, Mar 2025]

S-ong>antigenong>; retina and pineal gland (arrestin)

Members ong>ofong> arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization ong>ofong> G-protein-coupled receptors and cause specific dampening ong>ofong> cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-ong>antigenong>, is a major soluble photoreceptor protein that is involved in desensitization ong>ofong> the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling ong>ofong> rhodopsin to transducin in vitro. Additionally, S-arrestin is highly ong>antigenong>ic, and is capable ong>ofong> inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form ong>ofong> night blindness. [provided by RefSeq, Jul 2008]

HLA class I histocompatibility ong>antigenong>, A-69 alpha chain-like

ong>antigenong> 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 ong>ofong> the transferrin superfamily. The importance ong>ofong> the iron binding function has not yet been identified. This gene resides in the same region ong>ofong> chromosome 3 as members ong>ofong> the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]

sarcoma ong>antigenong> 4, pseudogene

sarcoma ong>antigenong> 3, pseudogene

carcinoembryonic ong>antigenong>-related cell adhesion molecule 1 (biliary glycoprotein)

This gene encodes a member ong>ofong> the carcinoembryonic ong>antigenong> (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups ong>ofong> 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 ong>ofong> chromosome 19. Eleven pseudogenes ong>ofong> the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts ong>ofong> 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 ong>ofong> the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement ong>ofong> tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation ong>ofong> innate and adaptive immune responses. Multiple transcript variants encoding different isong>ofong>orms have been reported, but the full-length nature ong>ofong> all variants has not been defined. [provided by RefSeq, May 2010]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 3

This gene encodes a member ong>ofong> the family ong>ofong> carcinoembryonic ong>antigenong>-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis ong>ofong> 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]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 5

This gene encodes a cell surface glycoprotein that represents the founding member ong>ofong> the carcinoembryonic ong>antigenong> (CEA) family ong>ofong> 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]

carcinoembryonic ong>antigenong>-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 ong>ofong> Genome Resources, Mar 2025]

carcinoembryonic ong>antigenong>-related cell adhesion molecule 7

This gene encodes a cell surface glycoprotein and member ong>ofong> the carcinoembryonic ong>antigenong> (CEA) family ong>ofong> proteins. Expression ong>ofong> this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels ong>ofong> this gene may be predictive ong>ofong> 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]

carcinoembryonic ong>antigenong>-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 ong>ofong> severe acute respiratory syndrome. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

melanoma ong>antigenong> family B6 pseudogene 1

Predicted to be involved in negative regulation ong>ofong> transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

cancer/testis ong>antigenong> 83 pseudogene

5E5 ong>antigenong>-like

B melanoma ong>antigenong> family, member 4

Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

B melanoma ong>antigenong> family, member 5

Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

B melanoma ong>antigenong> family, member 2

Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

B melanoma ong>antigenong> family, member 3

Predicted to be located in extracellular region. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

Ewing tumor-associated ong>antigenong> 1

Enables protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation ong>ofong> protein serine/threonine kinase activity; regulation ong>ofong> cell cycle phase transition; and replication fork processing. Located in cytosol; nuclear replication fork; and nucleoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

cancer/testis ong>antigenong> family 47, member A12

cancer/testis ong>antigenong> family 47, member A11

This locus represents a member ong>ofong> the cancer/testis gene family 47. This family, also known as CT47, is comprised ong>ofong> 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]

cancer/testis ong>antigenong> family 47, member A10

selectin P (granule membrane protein 140kDa, ong>antigenong> CD62)

This gene encodes a 140 kDa protein that is stored in the alpha-granules ong>ofong> platelets and Weibel-Palade bodies ong>ofong> endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction ong>ofong> activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms ong>ofong> Lewis blood group carbohydrate ong>antigenong>s on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

X ong>antigenong> family member 1A

This gene is a member ong>ofong> the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety ong>ofong> 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 ong>ofong> the expression pattern and the sequence similarity, this protein also belongs to a family ong>ofong> CT (cancer-testis) ong>antigenong>s. Alternative splicing ong>ofong> this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]

lymphocyte ong>antigenong> 6 family member L

Predicted to be located in side ong>ofong> membrane. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

lymphocyte ong>antigenong> 6 family member S

Predicted to act upstream ong>ofong> or within response to bacterium. Predicted to be located in external side ong>ofong> plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

cancer/testis ong>antigenong> family 47 member C1

sperm-associated ong>antigenong> 11B-like

X ong>antigenong> family member 1-like