CTLA4 cytotoxic T-lymphocyte-associated protein 4 [Homo sapiens (human)]
| Gene Symbol | CTLA4 |
| Entrez Gene ID | 1493 |
| Full Name | cytotoxic T-lymphocyte-associated protein 4 |
| Synonyms | CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, ICOS, IDDM12 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2q33 |
| 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]. |
| Disorder | MIM: 123890 {Graves disease, susceptibility to, 4} (3); {Hypothyroidism, |
| mRNA | NM_005214, 83700229 |
| Protein | NP_005205, 21361212 |
| Product | cytotoxic T-lymphocyte protein 4 isoform a precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001037631, 83700230 |
| Protein | NP_001032720, 83700231 |
| Product | cytotoxic T-lymphocyte protein 4 isoform b precursor |
| RefSeq Status | REVIEWED |
| hsa05320 | Autoimmune thyroid disease |
| hsa04514 | Cell adhesion molecules (CAMs) |
| hsa05323 | Rheumatoid arthritis |
| hsa04660 | T cell receptor signaling pathway |
Pathway Interaction Database
| nfat_tfpathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
Reactome
| REACT_19405 | CTLA4 inhibitory signaling |
| REACT_19344 | Costimulation by the CD28 family |
| REACT_6900 | Signaling in Immune system |
| Homo sapiens (human) | CTLA4 | NP_005205.2 |
| Pan troglodytes (chimpanzee) | CTLA4 | XP_526000.1 |
| Canis lupus familiaris (dog) | CTLA4 | NP_001003106.1 |
| Bos taurus (cattle) | CTLA4 | NP_776722.1 |
| Mus musculus (house mouse) | Ctla4 | NP_033973.2 |
| Rattus norvegicus (Norway rat) | Ctla4 | NP_113862.1 |
| Gallus gallus (chicken) | CTLA4 | NP_001035180.1 |
| ID | Name | Evidence |
| GO:0006955 | immune response | IEA |
| GO:0006974 | response to DNA damage stimulus | IMP |
| GO:0030889 | negative regulation of B cell proliferation | IMP |
| GO:0031295 | T cell costimulation | TAS |
| GO:0043065 | positive regulation of apoptosis | IMP |
| GO:0045590 | negative regulation of regulatory T cell differentiation | IDA |
| GO:0050853 | B cell receptor signaling pathway | IMP |
Component
| ID | Name | Evidence |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0005886 | plasma membrane | TAS |
| GO:0005887 | integral to plasma membrane | TAS |
| GO:0009897 | external side of plasma membrane | IDA |
| GO:0045334 | clathrin-coated endocytic vesicle | IDA |
| GO:0048471 | perinuclear region of cytoplasm | IDA |
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