CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1493
Gene name Gene Name - the full gene name approved by the HGNC.
Cytotoxic T-lymphocyte associated protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTLA4
Synonyms (NCBI Gene) Gene synonyms aliases
ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
LEF1 Unknown 16297665
MSC Activation 19561533
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123890 2505 ENSG00000163599
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Inherited Immunodeficiency Diseases rs1581573705, rs1581573640, rs1553657429 N/A
Show/Hide Unknown Diseases (12)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Autoimmune Lymphoproliferative Disorder autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency N/A N/A GenCC
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (469)
Associations from Text Mining Disease 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