• Gene id: 1493

Gene Summary

• Gene Symbol: CTLA4   Gene   UCSC   Ensembl
• Aliases: ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12
• Gene name: cytotoxic T-lymphocyte associated protein 4
• Alternate names: cytotoxic T-lymphocyte protein 4, CD152 isoform, celiac disease 3, cytotoxic T lymphocyte associated antigen 4 short spliced form, cytotoxic T-lymphocyte-associated serine esterase-4, insulin-dependent diabetes mellitus 12, ligand and transmembrane spliced cyto,
• Gene location: 2q33.2 (1955122: 1943973)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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, enco
• OMIM: 123890

Protein Summary

• Protein general information: P16410  
  • Name: Cytotoxic T lymphocyte protein 4 (Cytotoxic T lymphocyte associated antigen 4) (CTLA 4) (CD antigen CD152)
  • Length: 223  
  • Mass: 24656
  • Tissue specificity: Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following activation. {ECO
• Sequence:

  MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLR
  QADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIY
  VIDPEPCPDSDFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN

• Structural information:
  • Protein Domains: (39..14-)
    (/note="Ig-like-V-type")
  • Interpro: IPR008096  IPR040216  IPR036179  IPR013783  IPR003599   IPR013106  
  • PDB: 1AH1 1H6E 1I85 1I8L 2X44 3BX7 3OSK 5GGV 5TRU 5XJ3
  • PDBsum: 1AH1 1H6E 1I85 1I8L 2X44 3BX7 3OSK 5GGV 5TRU 5XJ3
  • DIP: 35607
  • STRING: ENSP00000303939
• Other Databases: GeneCards:  CTLA4  Malacards:  CTLA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0045590	negative regulation of regulatory T cell differentiation	IBA	biological process
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0002376	immune system process	IBA	biological process
GO:0050853	B cell receptor signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0042129	regulation of T cell proliferation	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0098636	protein complex involved in cell adhesion	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031295	T cell costimulation	TAS	biological process
GO:0045589	regulation of regulatory T cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050777	negative regulation of immune response	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045334	clathrin-coated endocytic vesicle	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0045590	negative regulation of regulatory T cell differentiation	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa04660	T cell receptor signaling pathway
hsa05323	Rheumatoid arthritis
hsa05320	Autoimmune thyroid disease

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Autoimmune lymphoproliferative syndromes	KEGG:H00108
Celiac disease	KEGG:H02123
Hashimoto thyroiditis	KEGG:H00081
Graves disease	KEGG:H00082
Rasmussen encephalitis	KEGG:H01812
Type 1 diabetes mellitus	KEGG:H00408
Autoimmune lymphoproliferative syndromes	KEGG:H00108
Celiac disease	KEGG:H02123
Hashimoto thyroiditis	KEGG:H00081
Graves disease	KEGG:H00082
Rasmussen encephalitis	KEGG:H01812
Immunoglobulin alpha deficiency	PMID:19020530
Non-Hodgkin lymphoma	PMID:15114591
Lupus nephritis	PMID:15146424
Celiac disease	PMID:10189842
Sarcoidosis	PMID:14620161
granulomatosis with polyangiitis	PMID:12022356
Primary biliary cirrhosis	PMID:10782900
Primary biliary cirrhosis	PMID:16584111
Primary biliary cirrhosis	PMID:21594562
Vitiligo	PMID:15649153
Vitiligo	PMID:21794098
Vitiligo	PMID:19129082
Graves' disease	PMID:14986169
Graves' disease	PMID:15785242
Graves' disease	PMID:10369864
Graves' disease	PMID:9672157
Graves' disease	PMID:12780750
Graves' disease	PMID:10404810
Graves' disease	PMID:20352109
Sjogren's syndrome	PMID:12528117
Sjogren's syndrome	PMID:16869018
Behcet's disease	PMID:19563524
Urinary schistosomiasis	PMID:22288822
Breast cancer	PMID:20482250
Breast cancer	PMID:17825114
Squamous cell carcinoma	PMID:19622768
Melanoma	PMID:23641913
Multiple sclerosis	PMID:19740340
basal cell carcinoma	PMID:19622768
Asthma	PMID:15871446
Asthma	PMID:18699801
Chronic obstructive pulmonary disease	PMID:21129004
Chronic obstructive pulmonary disease	PMID:20732370
Atopic dermatitis	PMID:22357516
Atopic dermatitis	PMID:16445777
renal cell carcinoma	PMID:17678726
Kidney disease	PMID:22700162
Myocardial infarction	PMID:17652883
Primary immunodeficiency disease	PMID:25329329
hepatocellular carcinoma	PMID:28648905
hepatocellular carcinoma	PMID:23432218
Autoimmune hemolytic anemia	PMID:12555221
Psoriasis	PMID:10974034
Systemic lupus erythematosus	PMID:18185908
acute myeloid leukemia	PMID:19092854
Iridocyclitis	PMID:17287608
multiple myeloma	PMID:11167807
type 1 diabetes mellitus	PMID:9259273
type 1 diabetes mellitus	PMID:8817351
type 1 diabetes mellitus	PMID:18443194
type 1 diabetes mellitus	PMID:16671945
Alopecia areata	PMID:23567921
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)