Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Identity

Alias_namesCELIAC3
IDDM12
celiac disease 3
insulin-dependent diabetes mellitus 12
Alias_symbol (synonym)CD152
CD
GSE
Other aliasALPS5
CTLA-4
GRD4
HGNC (Hugo) CTLA4
LocusID (NCBI) 1493
Atlas_Id 43902
Location 2q33.2  [Link to chromosome band 2q33]
Location_base_pair Starts at 203867788 and ends at 203873960 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CTLA4 (2q33.2) / ERBB2 (17q12)CTLA4 (2q33.2) / UPRT (Xq13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Autoimmune lymphoproliferative syndrome


External links

Nomenclature
HGNC (Hugo)CTLA4   2505
Cards
Entrez_Gene (NCBI)CTLA4  1493  cytotoxic T-lymphocyte associated protein 4
AliasesALPS5; CD; CD152; CELIAC3; 
CTLA-4; GRD4; GSE; IDDM12
GeneCards (Weizmann)CTLA4
Ensembl hg19 (Hinxton)ENSG00000163599 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163599 [Gene_View]  chr2:203867788-203873960 [Contig_View]  CTLA4 [Vega]
ICGC DataPortalENSG00000163599
TCGA cBioPortalCTLA4
AceView (NCBI)CTLA4
Genatlas (Paris)CTLA4
WikiGenes1493
SOURCE (Princeton)CTLA4
Genetics Home Reference (NIH)CTLA4
Genomic and cartography
GoldenPath hg38 (UCSC)CTLA4  -     chr2:203867788-203873960 +  2q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTLA4  -     2q33.2   [Description]    (hg19-Feb_2009)
EnsemblCTLA4 - 2q33.2 [CytoView hg19]  CTLA4 - 2q33.2 [CytoView hg38]
Mapping of homologs : NCBICTLA4 [Mapview hg19]  CTLA4 [Mapview hg38]
OMIM123890   140300   152700   601388   609755   616100   
Gene and transcription
Genbank (Entrez)AF414120 AF486806 AK313732 AY209009 AY792514
RefSeq transcript (Entrez)NM_001037631 NM_005214
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CTLA4
Cluster EST : UnigeneHs.247824 [ NCBI ]
CGAP (NCI)Hs.247824
Alternative Splicing GalleryENSG00000163599
Gene ExpressionCTLA4 [ NCBI-GEO ]   CTLA4 [ EBI - ARRAY_EXPRESS ]   CTLA4 [ SEEK ]   CTLA4 [ MEM ]
Gene Expression Viewer (FireBrowse)CTLA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1493
GTEX Portal (Tissue expression)CTLA4
Human Protein AtlasENSG00000163599-CTLA4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16410   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16410  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16410
Splice isoforms : SwissVarP16410
PhosPhoSitePlusP16410
Domains : Interpro (EBI)CTLA4    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set   
Domain families : Pfam (Sanger)V-set (PF07686)   
Domain families : Pfam (NCBI)pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  IGv (SM00406)  
Conserved Domain (NCBI)CTLA4
DMDM Disease mutations1493
Blocks (Seattle)CTLA4
PDB (SRS)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
PDB (PDBSum)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
PDB (IMB)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
PDB (RSDB)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
Structural Biology KnowledgeBase1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
SCOP (Structural Classification of Proteins)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
CATH (Classification of proteins structures)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK    5GGV   
SuperfamilyP16410
Human Protein Atlas [tissue]ENSG00000163599-CTLA4 [tissue]
Peptide AtlasP16410
HPRD00474
IPIIPI00028559   IPI01018238   IPI00604432   IPI00945919   IPI01010540   IPI00027999   IPI01010222   
Protein Interaction databases
DIP (DOE-UCLA)P16410
IntAct (EBI)P16410
FunCoupENSG00000163599
BioGRIDCTLA4
STRING (EMBL)CTLA4
ZODIACCTLA4
Ontologies - Pathways
QuickGOP16410
Ontology : AmiGOadaptive immune response  protein binding  Golgi apparatus  plasma membrane  integral component of plasma membrane  immune response  cellular response to DNA damage stimulus  external side of plasma membrane  negative regulation of B cell proliferation  T cell costimulation  negative regulation of T cell proliferation  positive regulation of apoptotic process  clathrin-coated endocytic vesicle  negative regulation of regulatory T cell differentiation  perinuclear region of cytoplasm  negative regulation of immune response  B cell receptor signaling pathway  protein complex involved in cell adhesion  
Ontology : EGO-EBIadaptive immune response  protein binding  Golgi apparatus  plasma membrane  integral component of plasma membrane  immune response  cellular response to DNA damage stimulus  external side of plasma membrane  negative regulation of B cell proliferation  T cell costimulation  negative regulation of T cell proliferation  positive regulation of apoptotic process  clathrin-coated endocytic vesicle  negative regulation of regulatory T cell differentiation  perinuclear region of cytoplasm  negative regulation of immune response  B cell receptor signaling pathway  protein complex involved in cell adhesion  
Pathways : BIOCARTAThe Co-Stimulatory Signal During T-cell Activation [Genes]   
Pathways : KEGGCell adhesion molecules (CAMs)    T cell receptor signaling pathway    Autoimmune thyroid disease    Rheumatoid arthritis   
NDEx NetworkCTLA4
Atlas of Cancer Signalling NetworkCTLA4
Wikipedia pathwaysCTLA4
Orthology - Evolution
OrthoDB1493
GeneTree (enSembl)ENSG00000163599
Phylogenetic Trees/Animal Genes : TreeFamCTLA4
HOVERGENP16410
HOGENOMP16410
Homologs : HomoloGeneCTLA4
Homology/Alignments : Family Browser (UCSC)CTLA4
Gene fusions - Rearrangements
Tumor Fusion PortalCTLA4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTLA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTLA4
dbVarCTLA4
ClinVarCTLA4
1000_GenomesCTLA4 
Exome Variant ServerCTLA4
ExAC (Exome Aggregation Consortium)ENSG00000163599
GNOMAD BrowserENSG00000163599
Genetic variants : HAPMAP1493
Genomic Variants (DGV)CTLA4 [DGVbeta]
DECIPHERCTLA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCTLA4 
Mutations
ICGC Data PortalCTLA4 
TCGA Data PortalCTLA4 
Broad Tumor PortalCTLA4
OASIS PortalCTLA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTLA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTLA4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CTLA4
DgiDB (Drug Gene Interaction Database)CTLA4
DoCM (Curated mutations)CTLA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTLA4 (select a term)
intoGenCTLA4
Cancer3DCTLA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123890    140300    152700    601388    609755    616100   
Orphanet759    3400    3401    22629    23329   
DisGeNETCTLA4
MedgenCTLA4
Genetic Testing Registry CTLA4
NextProtP16410 [Medical]
TSGene1493
GENETestsCTLA4
Target ValidationCTLA4
Huge Navigator CTLA4 [HugePedia]
snp3D : Map Gene to Disease1493
BioCentury BCIQCTLA4
ClinGenCTLA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1493
Chemical/Pharm GKB GenePA27006
Clinical trialCTLA4
Miscellaneous
canSAR (ICR)CTLA4 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTLA4
EVEXCTLA4
GoPubMedCTLA4
iHOPCTLA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:09:26 CET 2017

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