CTLA4
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, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:123890 Ensembl IDEnsembl:ENSG00000163599 HGNC IDHGNC:HGNC:2505 PHARMGKB IDPA27006 Map Location2q33.2 | |||||
GO terms in CTLA4
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IMP | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0045334 | clathrin-coated endocytic vesicle |
Gene expression in normal tissue: CTLA4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CTLA4
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | ctla4pathway | the co-stimulatory signal during t-cell activation |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-388841 | Costimulation by the CD28 family |
| reactome | R-HSA-389513 | CTLA4 inhibitory signaling |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTLA4
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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