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CTLA4 (cytotoxic T-lymphocyte-associated protein 4)

Identity

Other namesALPS5
CD
CD152
CELIAC3
CTLA-4
GRD4
GSE
IDDM12
HGNC (Hugo) CTLA4
LocusID (NCBI) 1493
Atlas_Id 43902
Location 2q33.2
Location_base_pair Starts at 204732511 and ends at 204738683 bp from pter ( according to hg19-Feb_2009)

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)
  Autoimmune lymphoproliferative syndrome

External links

Nomenclature
HGNC (Hugo)CTLA4   2505
Cards
Entrez_Gene (NCBI)CTLA4  1493  cytotoxic T-lymphocyte-associated protein 4
GeneCards (Weizmann)CTLA4
Ensembl hg19 (Hinxton)ENSG00000163599 [Gene_View]  chr2:204732511-204738683 [Contig_View]  CTLA4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163599 [Gene_View]  chr2:204732511-204738683 [Contig_View]  CTLA4 [Vega]
ICGC DataPortalENSG00000163599
TCGA cBioPortalCTLA4
AceView (NCBI)CTLA4
Genatlas (Paris)CTLA4
WikiGenes1493
SOURCE (Princeton)CTLA4
Genomic and cartography
GoldenPath hg19 (UCSC)CTLA4  -     chr2:204732511-204738683 +  2q33.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CTLA4  -     2q33.2   [Description]    (hg38-Dec_2013)
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)NC_000002 NC_018913 NG_011502 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)CTLA4
Cluster EST : UnigeneHs.247824 [ NCBI ]
CGAP (NCI)Hs.247824
Alternative Splicing : Fast-db (Paris)GSHG0017127
Alternative Splicing GalleryENSG00000163599
Gene ExpressionCTLA4 [ NCBI-GEO ]     CTLA4 [ SEEK ]   CTLA4 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1493
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16410 (Uniprot)
NextProtP16410  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16410
Splice isoforms : SwissVarP16410 (Swissvar)
PhosPhoSitePlusP16410
Domains : Interpro (EBI)CTLA4    Ig-like_fold    Ig_V-set   
Domain families : Pfam (Sanger)V-set (PF07686)   
Domain families : Pfam (NCBI)pfam07686   
Domain families : Smart (EMBL)IGv (SM00406)  
DMDM Disease mutations1493
Blocks (Seattle)CTLA4
PDB (SRS)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
PDB (PDBSum)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
PDB (IMB)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
PDB (RSDB)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
Structural Biology KnowledgeBase1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
SCOP (Structural Classification of Proteins)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
CATH (Classification of proteins structures)1AH1    1H6E    1I85    1I8L    2X44    3BX7    3OSK   
Human Protein AtlasENSG00000163599
Peptide AtlasP16410
HPRD00474
IPIIPI00028559   IPI01018238   IPI00604432   IPI00945919   IPI01010540   IPI00027999   IPI01010222   
Protein Interaction databases
DIP (DOE-UCLA)P16410
IntAct (EBI)P16410
FunCoupENSG00000163599
BioGRIDCTLA4
IntegromeDBCTLA4
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  positive regulation of apoptotic process  clathrin-coated endocytic vesicle  negative regulation of regulatory T cell differentiation  perinuclear region of cytoplasm  B cell receptor signaling pathway  
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  positive regulation of apoptotic process  clathrin-coated endocytic vesicle  negative regulation of regulatory T cell differentiation  perinuclear region of cytoplasm  B cell receptor signaling pathway  
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   
Protein Interaction DatabaseCTLA4
Atlas of Cancer Signalling NetworkCTLA4
Wikipedia pathwaysCTLA4
Orthology - Evolution
OrthoDB1493
GeneTree (enSembl)ENSG00000163599
Phylogenetic Trees/Animal Genes : TreeFamCTLA4
Homologs : HomoloGeneCTLA4
Homology/Alignments : Family Browser (UCSC)CTLA4
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCTLA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTLA4
dbVarCTLA4
ClinVarCTLA4
1000_GenomesCTLA4 
Exome Variant ServerCTLA4
Exome Aggregation Consortium (ExAC)ENSG00000163599
SNP (GeneSNP Utah)CTLA4
SNP : HGBaseCTLA4
Genetic variants : HAPMAPCTLA4
Genomic Variants (DGV)CTLA4 [DGVbeta]
Mutations
ICGC Data PortalCTLA4 
TCGA Data PortalCTLA4 
Tumor PortalCTLA4
TCGA Copy Number PortalCTLA4
Somatic Mutations in Cancer : COSMICCTLA4 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:204732511-204738683
CONAN: Copy Number AnalysisCTLA4 
Mutations and Diseases : HGMDCTLA4
OMIM123890    140300    152700    601388    609755    616100   
MedgenCTLA4
NextProtP16410 [Medical]
TSGene1493
GENETestsCTLA4
Huge Navigator CTLA4 [HugePedia]  CTLA4 [HugeCancerGEM]
snp3D : Map Gene to Disease1493
BioCentury BCIQCTLA4
General knowledge
Chemical/Protein Interactions : CTD1493
Chemical/Pharm GKB GenePA27006
Clinical trialCTLA4
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTLA4
GoPubMedCTLA4
iHOPCTLA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 18:25:13 CET 2016

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