CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1493
Gene name Cytotoxic T-lymphocyte associated protein 4
Gene symbol CTLA4
Synonyms (NCBI Gene)
ALPS5CDCD152CELIAC3CTLA-4GRD4GSEIDDM12
Chromosome 2
Chromosome location 2q33.2
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, enco
SNPs SNP information provided by dbSNP.
19
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
SNP ID Visualize variation Clinical significance Consequence
rs231775 A>G,T Benign, risk-factor Coding sequence variant, missense variant
rs3087243 G>A Risk-factor Downstream transcript variant
rs606231417 C>T Pathogenic Stop gained, coding sequence variant
rs606231418 G>- Pathogenic Coding sequence variant, frameshift variant
rs606231419 G>C Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
99
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (99)
miRTarBase ID miRNA Experiments Reference
MIRT004436 hsa-miR-155-5p Microarray 19193853
MIRT049319 hsa-miR-92a-3p CLASH 23622248
MIRT503700 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT503699 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT503698 hsa-miR-3924 HITS-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
LEF1 Unknown 16297665
MSC Activation 19561533
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 7807015, 9398332, 9813138, 11279501, 11279502, 20587542, 21982860, 25241761, 26206937, 32296183, 33961781
GO:0005794 Component Golgi apparatus IDA 15814706
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123890 2505 ENSG00000163599
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16410
Protein name Cytotoxic T-lymphocyte protein 4 (Cytotoxic T-lymphocyte-associated antigen 4) (CTLA-4) (CD antigen CD152)
Protein function Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28. {ECO:0
PDB 1AH1 , 1H6E , 1I85 , 1I8L , 2X44 , 3BX7 , 3OSK , 5GGV , 5TRU , 5XJ3 , 6RP8 , 6RPJ , 6RQM , 6XY2 , 7CIO , 7DV4 , 7ELX , 7SU0 , 7SU1 , 8GAB , 8HIT , 9DQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 41 → 152 Immunoglobulin V-set domain Domain
Tissue specificity 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:0000269|PubMe
Sequence 
MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEY
ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLR
AMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFL
LTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN
Sequence length 223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cell adhesion molecules
T cell receptor signaling pathway
Autoimmune thyroid disease
Rheumatoid arthritis 		  CTLA4 inhibitory signaling
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
250
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Pathogenic; Likely pathogenic rs1688714490, rs2105772857, rs1581573923, rs1688714703, rs606231417, rs606231418, rs606231419, rs606231420, rs606231421, rs606231422, rs2469719636, rs2469719710, rs2469720798, rs2469719282, rs1553657387
View all (20 more)		 RCV001331373
RCV001974843
RCV001976036
RCV001997536
RCV000148290
RCV000148291
RCV000148292
RCV000148293
RCV000148294
RCV000148295
RCV006437144
RCV003061540
RCV003079037
RCV003016621
RCV003055780
RCV003142406
RCV004725136
RCV003586701
RCV003587877
RCV000652446
RCV000529257
RCV000585701
RCV000694344
RCV000850251
RCV002061137
RCV000800177
RCV000798587
RCV001208574
RCV006436996
RCV001056793
RCV001059257
RCV001057860
RCV001053629
RCV001039297
RCV001046603
RCV001215551
RCV001244418
RCV001239952
RCV001267755
Celiac disease, susceptibility to, 3 Pathogenic; Likely pathogenic rs606231417, rs1553657429, rs1581573970 RCV005016468
RCV000768197
RCV002061137
CTLA4-related disorder Pathogenic; Likely pathogenic rs2469719729, rs1688718864 RCV003903848
RCV004731084
Hashimoto thyroiditis Pathogenic; Likely pathogenic rs606231417, rs1553657429, rs1581573970 RCV005016468
RCV000768197
RCV002061137
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
chronic fatigue syndrome with infection-triggered onset Benign rs3087243 RCV001254798
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Conflicting classifications of pathogenicity rs1688731180 RCV004813164
Hashimoto thyroiditis, susceptibility to Benign rs231775 RCV000018423
Show/Hide Text Mining Associations (469)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 18362907, 37305822
Abortion Habitual Associate 27351445, 35027970
Abortion Spontaneous Associate 32429643
ACTH Deficiency Isolated Associate 30814440
Acute Disease Associate 22586180, 26555814
Addison Disease Associate 24614117, 36443461
Adenocarcinoma Stimulate 29672601
Adenocarcinoma Associate 35708739, 36275893, 36445478, 36452120, 36790524
Adenocarcinoma of Lung Associate 26851185, 31909418, 32143735, 32372138, 33314730, 33977344, 34887858, 35422758, 35476781, 35946526, 37131252, 37790851, 37955668
Adenoma Stimulate 37870923