Entrez gene ID | | 1493 |
Official gene symbol | | CTLA4 |
Full name | | cytotoxic T-lymphocyte-associated protein 4 |
Aliases | | ,CD,CD152,CELIAC3,CTLA-4,GRD4,GSE,ICOS,IDDM12, |
Gene summary | | This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q33 |
Gene position | | 204732509 - 204738683 Map Viewer |
Gene orientation | | plus |
Gene size | | 6175 bp |
Gene sequence |
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OMIM ID | | 123890 |
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