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 |
|---|---|---|---|---|---|
| cytotoxic T-lymphocyte associated protein 4 | MIM:123890 | Ensembl:ENSG00000163599 | HGNC:HGNC:2505 | PA27006 | 2q33.2 |
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 |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | IDA | GO:0098636 | protein complex involved in cell adhesion |
| BP | IEA | GO:0002250 | adaptive immune response |
| BP | TAS | GO:0006955 | immune response |
| BP | IMP | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IMP | GO:0030889 | negative regulation of B cell proliferation |
| BP | TAS | GO:0031295 | T cell costimulation |
| BP | IEA | GO:0042130 | negative regulation of T cell proliferation |
| BP | IMP | GO:0043065 | positive regulation of apoptotic process |
| BP | TAS | GO:0045589 | regulation of regulatory T cell differentiation |
| BP | IDA | GO:0045590 | negative regulation of regulatory T cell differentiation |
| BP | IEA | GO:0050777 | negative regulation of immune response |
| BP | IMP | GO:0050853 | B cell receptor signaling pathway |
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 |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8877330 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| wikipathways | WP2328 | Allograft Rejection |
| wikipathways | WP2583 | T-Cell Receptor and Co-stimulatory Signaling |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP3863 | T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection |
| wikipathways | WP4079 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
| kegg | hsa04660 | T cell receptor signaling pathway - Homo sapiens (human) |
| kegg | hsa05320 | Autoimmune thyroid disease - Homo sapiens (human) |
| kegg | hsa05323 | Rheumatoid arthritis - Homo sapiens (human) |
| pid | nfat_tfpathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
| netpath | Pathway_TCR | TCR |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD642 | Skepinone-L | 1 |
| iGMDRD137 | Indisulam | 5 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD372 | TGX 221 | 1 |
| iGMDRD87 | Epigallocatechin-3-monogallate | 2 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD505 | Pevonedistat | 8 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD387 | CHIR-99021 | 3 |
| iGMDRD889 | Compound 7d-cis | 3 |
| iGMDRD628 | BRD-K55116708 | 1 |
| iGMDRD370 | TPCA-1 | 1 |
| iGMDRD150 | RITA | 5 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD239 | Dasatinib | 1 |
| iGMDRD427 | ABT737 | 6 |
| iGMDRD256 | NVP-231 | 1 |
| iGMDRD484 | Pluripotin | 1 |
| iGMDRD358 | Semagacestat | 2 |
| iGMDRD676 | Birinapant | 1 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTLA4
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