CTLA4 (cytotoxic T-lymphocyte associated protein 4)

2007-02-01  

Identity

HGNC
CTLA4
LOCATION
2q33.2
LOCUSID
1493
ALIAS
ALPS5,CD,CD152,CELIAC3,CTLA-4,GRD4,GSE,IDDM12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1493
MIM: 123890
HGNC: 2505
Ensembl: ENSG00000163599

Variants:

dbSNP: 1493
ClinVar: 1493
TCGA: ENSG00000163599
COSMIC: CTLA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163599ENST00000295854P16410
ENSG00000163599ENST00000472206P16410
ENSG00000163599ENST00000487393P16410
ENSG00000163599ENST00000648405P16410

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
T cell receptor signaling pathwayKEGGko04660
Autoimmune thyroid diseaseKEGGko05320
Cell adhesion molecules (CAMs)KEGGhsa04514
T cell receptor signaling pathwayKEGGhsa04660
Autoimmune thyroid diseaseKEGGhsa05320
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Costimulation by the CD28 familyREACTOMER-HSA-388841
CTLA4 inhibitory signalingREACTOMER-HSA-389513

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10252bortezomibChemicalClinicalAnnotationassociatedPD21228734
PA164712462Antiinflammatory agents, non-steroidsChemicalClinicalAnnotationassociatedPD28750137
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD26194362
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPKPD18021981
PA445451PsoriasisDiseaseClinicalAnnotationassociatedPD26194362
PA449167cyclosporineChemicalClinicalAnnotationassociatedPD18021981
PA449247dexamethasoneChemicalClinicalAnnotationassociatedPD21228734
PA450354melphalanChemicalClinicalAnnotationassociatedPD21228734
PA451100prednisoneChemicalClinicalAnnotationassociatedPD21228734
PA451578tacrolimusChemicalClinicalAnnotationassociatedPK

References

Pubmed IDYearTitleCitations
254092602014Genetic basis for clinical response to CTLA-4 blockade in melanoma.1196
162276042005CTLA-4 and PD-1 receptors inhibit T-cell activation by distinct mechanisms.524
127247802003Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.480
214747132011Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4.428
128266052003Cancer regression and autoimmunity induced by cytotoxic T lymphocyte-associated antigen 4 blockade in patients with metastatic melanoma.409
288353862017Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers.341
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
169317202006Reversal of the TCR stop signal by CTLA-4.210
252133772014Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.204
222718792012CTLA-4 blockade with ipilimumab: long-term follow-up of 177 patients with metastatic melanoma.184

Citation

Dessen P

CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43902/ctla4