ENSG00000167286


Homo sapiens

Features
Gene ID: ENSG00000167286
  
Biological name :CD3D
  
Synonyms : CD3D / CD3d molecule / P04234
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 118338954
Gene end: 118342744
  
Corresponding Affymetrix probe sets: 213539_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000376622
Ensembl peptide - ENSP00000437335
Ensembl peptide - ENSP00000434794
Ensembl peptide - ENSP00000300692
NCBI entrez gene - 915     See in Manteia.
OMIM - 186790
RefSeq - XM_017018543
RefSeq - NM_000732
RefSeq - NM_001040651
RefSeq Peptide - NP_000723
RefSeq Peptide - NP_001035741
swissprot - P04234
swissprot - E9PMT5
swissprot - B0YIY4
swissprot - H0YE18
Ensembl - ENSG00000167286
  
Related genetic diseases (OMIM): 615617 - Immunodeficiency 19, 615617
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CD3DENSGALG00000007418Gallus gallus
 Cd3dENSMUSG00000032094Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CD3G / P09693 / CD3g moleculeENSG0000016065440


Protein motifs (from Interpro)
Interpro ID Name
 IPR003110  Phosphorylated immunoreceptor signalling ITAM
 IPR013783  Immunoglobulin-like fold
 IPR015484  CD3 protein, epsilon/gamma/delta subunit
 IPR015485  T-cell surface glycoprotein CD3 delta chain
 IPR032052  CD3 gamma/delta subunit, Ig-like domain
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IC
 biological_processGO:0030217 T cell differentiation IDA
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0045059 positive thymic T cell selection ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051260 protein homooligomerization IMP
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005737 cytoplasm NAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0042101 T cell receptor complex IDA
 cellular_componentGO:0042105 alpha-beta T cell receptor complex IEA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IC
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
PD-1 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0001508 Failure to thrive 
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 HP:0001888 Lymphopenia 
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 HP:0002014 Diarrhea 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002721 Immunodeficiency 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / reaction / complex
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / reaction
 ENSG00000115085 ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70  / complex / reaction
 ENSG00000158477 CD1A / P06126 / CD1a molecule  / complex / reaction
 ENSG00000153563 CD8A / P01732 / CD8a molecule  / complex
 ENSG00000158485 CD1B / P29016 / CD1b molecule  / reaction / complex
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / complex / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / reaction / complex
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / complex / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction
 ENSG00000158473 CD1D / P15813 / CD1d molecule  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction / complex
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / complex / reaction
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / complex / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / reaction / complex
 ENSG00000065675 PRKCQ / Q04759 / protein kinase C theta  / reaction
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / reaction / complex
 ENSG00000158481 CD1C / P29017 / CD1c molecule  / reaction / complex
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000172116 CD8B / P10966 / CD8b molecule  / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000134242 PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22  / reaction
 ENSG00000149177 PTPRJ / Q12913 / protein tyrosine phosphatase, receptor type J  / reaction






 

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