ENSG00000198851


Homo sapiens

Features
Gene ID: ENSG00000198851
  
Biological name :CD3E
  
Synonyms : CD3E / CD3e molecule / P07766
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q23.3
Gene start: 118304545
Gene end: 118316175
  
Corresponding Affymetrix probe sets: 205456_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354566
Ensembl peptide - ENSP00000433975
NCBI entrez gene - 916     See in Manteia.
OMIM - 186830
RefSeq - NM_000733
RefSeq Peptide - NP_000724
swissprot - E9PSH8
swissprot - P07766
Ensembl - ENSG00000198851
  
Related genetic diseases (OMIM): 615615 - Immunodeficiency 18, 615615
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
 CD3EENSGALG00000007416Gallus gallus
 Cd3eENSMUSG00000032093Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003110  Phosphorylated immunoreceptor signalling ITAM
 IPR003598  Immunoglobulin subtype 2
 IPR013783  Immunoglobulin-like fold
 IPR015484  CD3 protein, epsilon/gamma/delta subunit
 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:0002669 positive regulation of T cell anergy IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS
 biological_processGO:0007172 signal complex assembly TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0016358 dendrite development IEA
 biological_processGO:0021549 cerebellum development IEA
 biological_processGO:0031295 T cell costimulation IEA
 biological_processGO:0032729 positive regulation of interferon-gamma production IEA
 biological_processGO:0032753 positive regulation of interleukin-4 production IEA
 biological_processGO:0033077 T cell differentiation in thymus IEA
 biological_processGO:0042102 positive regulation of T cell proliferation IEA
 biological_processGO:0042110 T cell activation NAS
 biological_processGO:0042981 regulation of apoptotic process NAS
 biological_processGO:0045060 negative thymic T cell selection IEA
 biological_processGO:0045086 positive regulation of interleukin-2 biosynthetic process IEA
 biological_processGO:0045879 negative regulation of smoothened signaling pathway IEA
 biological_processGO:0046641 positive regulation of alpha-beta T cell proliferation IEA
 biological_processGO:0046649 lymphocyte activation IEA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0050850 positive regulation of calcium-mediated signaling IEA
 biological_processGO:0050852 T cell receptor signaling pathway IEA
 biological_processGO:0050870 positive regulation of T cell activation IEA
 biological_processGO:0051260 protein homooligomerization IMP
 biological_processGO:0065003 protein-containing complex assembly NAS
 biological_processGO:0097190 apoptotic signaling pathway IEA
 cellular_componentGO:0001772 immunological synapse IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042101 T cell receptor complex IDA
 cellular_componentGO:0042105 alpha-beta T cell receptor complex IEA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017124 SH3 domain binding IPI
 molecular_functionGO:0019901 protein kinase binding NAS
 molecular_functionGO:0030159 receptor signaling complex scaffold activity NAS
 molecular_functionGO:0042608 T cell receptor binding NAS
 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


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:0001888 Lymphopenia 
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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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 HP:0003828 Variable expressivity 
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 HP:0030253 Defective T cell proliferation "A reduced ability of a T cell population to expand by cell division following T cell activation." [HPO:probinson]
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 HP:0031123 Recurrent gastroenteritis "Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis." []
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 HP:0045080 Decreased number of CD3+ T cells 
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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
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / complex / reaction
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction / complex
 ENSG00000172116 CD8B / P10966 / CD8b molecule  / complex
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / complex / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction
 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
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction / complex
 ENSG00000158473 CD1D / P15813 / CD1d molecule  / reaction / complex
 ENSG00000158485 CD1B / P29016 / CD1b molecule  / complex / 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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