Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CD247 (CD247 molecule)

Identity

Alias_namesCD3Z
CD3z antigen, zeta polypeptide (TiT3 complex)
CD247 antigen
Alias_symbol (synonym)CD3H
CD3Q
Other aliasCD3-ZETA
IMD25
T3Z
TCRZ
HGNC (Hugo) CD247
LocusID (NCBI) 919
Atlas_Id 45961
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 167430640 and ends at 167518610 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)
CD247 (1q24.2) / ANO5 (11p14.3)CD247 (1q24.2) / GPR161 (1q24.2)POU2F1 (1q24.2) / CD247 (1q24.2)
POU2F1 1q24.2 / CD247 1q24.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lung: Translocations in Adenocarcinoma
t(1;1)(q24;q24) POU2F1/CD247
t(1;1)(q24;q24) CD247/GPR161

External links

Nomenclature
HGNC (Hugo)CD247   1677
LRG (Locus Reference Genomic)LRG_36
Cards
Entrez_Gene (NCBI)CD247  919  CD247 molecule
AliasesCD3-ZETA; CD3H; CD3Q; CD3Z; 
IMD25; T3Z; TCRZ
GeneCards (Weizmann)CD247
Ensembl hg19 (Hinxton)ENSG00000198821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198821 [Gene_View]  ENSG00000198821 [Sequence]  chr1:167430640-167518610 [Contig_View]  CD247 [Vega]
ICGC DataPortalENSG00000198821
TCGA cBioPortalCD247
AceView (NCBI)CD247
Genatlas (Paris)CD247
WikiGenes919
SOURCE (Princeton)CD247
Genetics Home Reference (NIH)CD247
Genomic and cartography
GoldenPath hg38 (UCSC)CD247  -     chr1:167430640-167518610 -  1q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD247  -     1q24.2   [Description]    (hg19-Feb_2009)
EnsemblCD247 - 1q24.2 [CytoView hg19]  CD247 - 1q24.2 [CytoView hg38]
Mapping of homologs : NCBICD247 [Mapview hg19]  CD247 [Mapview hg38]
OMIM186780   610163   
Gene and transcription
Genbank (Entrez)AF228312 AI420774 AK128376 AK223325 AK313946
RefSeq transcript (Entrez)NM_000734 NM_198053
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD247
Cluster EST : UnigeneHs.156445 [ NCBI ]
CGAP (NCI)Hs.156445
Alternative Splicing GalleryENSG00000198821
Gene ExpressionCD247 [ NCBI-GEO ]   CD247 [ EBI - ARRAY_EXPRESS ]   CD247 [ SEEK ]   CD247 [ MEM ]
Gene Expression Viewer (FireBrowse)CD247 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)919
GTEX Portal (Tissue expression)CD247
Human Protein AtlasENSG00000198821-CD247 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20963   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20963  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20963
Splice isoforms : SwissVarP20963
PhosPhoSitePlusP20963
Domaine pattern : Prosite (Expaxy)ITAM_1 (PS51055)   
Domains : Interpro (EBI)CD3_zeta/IgE_Fc_rcpt_gamma    Phos_immunorcpt_sig_ITAM    T-cell_CD3_zeta   
Domain families : Pfam (Sanger)ITAM (PF02189)    TCR_zetazeta (PF11628)   
Domain families : Pfam (NCBI)pfam02189    pfam11628   
Domain families : Smart (EMBL)ITAM (SM00077)  
Conserved Domain (NCBI)CD247
DMDM Disease mutations919
Blocks (Seattle)CD247
PDB (SRS)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
PDB (PDBSum)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
PDB (IMB)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
PDB (RSDB)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
Structural Biology KnowledgeBase1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
SCOP (Structural Classification of Proteins)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
CATH (Classification of proteins structures)1TCE    1YGR    2HAC    2OQ1    3IK5    3IOZ    4XZ1   
SuperfamilyP20963
Human Protein Atlas [tissue]ENSG00000198821-CD247 [tissue]
Peptide AtlasP20963
HPRD01729
IPIIPI00218634   IPI00375504   IPI00431745   
Protein Interaction databases
DIP (DOE-UCLA)P20963
IntAct (EBI)P20963
FunCoupENSG00000198821
BioGRIDCD247
STRING (EMBL)CD247
ZODIACCD247
Ontologies - Pathways
QuickGOP20963
Ontology : AmiGOadaptive immune response  transmembrane signaling receptor activity  protein binding  cytoplasm  plasma membrane  plasma membrane  integral component of membrane  T cell costimulation  Fc-gamma receptor signaling pathway involved in phagocytosis  T cell receptor complex  alpha-beta T cell receptor complex  identical protein binding  protein homodimerization activity  protein homodimerization activity  regulation of defense response to virus by virus  regulation of immune response  T cell receptor signaling pathway  protein homotetramerization  protein homotrimerization  protein tyrosine kinase binding  
Ontology : EGO-EBIadaptive immune response  transmembrane signaling receptor activity  protein binding  cytoplasm  plasma membrane  plasma membrane  integral component of membrane  T cell costimulation  Fc-gamma receptor signaling pathway involved in phagocytosis  T cell receptor complex  alpha-beta T cell receptor complex  identical protein binding  protein homodimerization activity  protein homodimerization activity  regulation of defense response to virus by virus  regulation of immune response  T cell receptor signaling pathway  protein homotetramerization  protein homotrimerization  protein tyrosine kinase binding  
Pathways : BIOCARTACTL mediated immune response against target cells [Genes]    Role of Tob in T-cell activation [Genes]    IL12 and Stat4 Dependent Signaling Pathway in Th1 Development [Genes]    T Cell Receptor Signaling Pathway [Genes]    T Cell Receptor and CD3 Complex [Genes]    Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor [Genes]    T Helper Cell Surface Molecules [Genes]    The Co-Stimulatory Signal During T-cell Activation [Genes]    T Cytotoxic Cell Surface Molecules [Genes]    NO2-dependent IL 12 Pathway in NK cells [Genes]    Stathmin and breast cancer resistance to antimicrotubule agents [Genes]    IL 17 Signaling Pathway [Genes]    HIV Induced T Cell Apoptosis [Genes]    Lck and Fyn tyrosine kinases in initiation of TCR Activation [Genes]   
Pathways : KEGGT cell receptor signaling pathway    Natural killer cell mediated cytotoxicity   
NDEx NetworkCD247
Atlas of Cancer Signalling NetworkCD247
Wikipedia pathwaysCD247
Orthology - Evolution
OrthoDB919
GeneTree (enSembl)ENSG00000198821
Phylogenetic Trees/Animal Genes : TreeFamCD247
HOVERGENP20963
HOGENOMP20963
Homologs : HomoloGeneCD247
Homology/Alignments : Family Browser (UCSC)CD247
Gene fusions - Rearrangements
Fusion : MitelmanCD247/GPR161 [1q24.2/1q24.2]  
Fusion : MitelmanPOU2F1/CD247 [1q24.2/1q24.2]  [t(1;1)(q24;q24)]  
Fusion PortalPOU2F1 1q24.2 CD247 1q24.2 BRCA
Fusion : QuiverCD247
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD247 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD247
dbVarCD247
ClinVarCD247
1000_GenomesCD247 
Exome Variant ServerCD247
ExAC (Exome Aggregation Consortium)ENSG00000198821
GNOMAD BrowserENSG00000198821
Genetic variants : HAPMAP919
Genomic Variants (DGV)CD247 [DGVbeta]
DECIPHERCD247 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD247 
Mutations
ICGC Data PortalCD247 
TCGA Data PortalCD247 
Broad Tumor PortalCD247
OASIS PortalCD247 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD247  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD247
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 CD247
DgiDB (Drug Gene Interaction Database)CD247
DoCM (Curated mutations)CD247 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD247 (select a term)
intoGenCD247
Cancer3DCD247(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM186780    610163   
Orphanet17831    11710    11709   
DisGeNETCD247
MedgenCD247
Genetic Testing Registry CD247
NextProtP20963 [Medical]
TSGene919
GENETestsCD247
Target ValidationCD247
Huge Navigator CD247 [HugePedia]
snp3D : Map Gene to Disease919
BioCentury BCIQCD247
ClinGenCD247
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD919
Chemical/Pharm GKB GenePA26219
Clinical trialCD247
Miscellaneous
canSAR (ICR)CD247 (select the gene name)
Probes
Litterature
PubMed223 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD247
EVEXCD247
GoPubMedCD247
iHOPCD247
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 : Fri Jun 22 16:18:17 CEST 2018
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