ENSG00000198821


Homo sapiens

Features
Gene ID: ENSG00000198821
  
Biological name :CD247
  
Synonyms : CD247 / CD247 molecule / P20963
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q24.2
Gene start: 167430640
Gene end: 167518610
  
Corresponding Affymetrix probe sets: 210031_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354782
Ensembl peptide - ENSP00000375969
NCBI entrez gene - 919     See in Manteia.
OMIM - 186780
RefSeq - XM_017002801
RefSeq - NM_000734
RefSeq - NM_198053
RefSeq - XM_011510144
RefSeq - XM_011510145
RefSeq - XM_017002800
RefSeq Peptide - NP_932170
RefSeq Peptide - NP_000725
swissprot - P20963
Ensembl - ENSG00000198821
  
Related genetic diseases (OMIM): 610163 - ?Immunodeficiency 25, 610163
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
 cd247lENSDARG00000077240Danio rerio
 CD247ENSGALG00000015441Gallus gallus
 Cd247ENSMUSG00000005763Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003110  Phosphorylated immunoreceptor signalling ITAM
 IPR021663  T-cell surface glycoprotein CD3 zeta subunit/High affinity IgE receptor gamma subunit
 IPR024128  T-cell surface glycoprotein CD3 zeta subunit


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 IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051289 protein homotetramerization IMP
 biological_processGO:0070207 protein homotrimerization IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042101 T cell receptor complex TAS
 cellular_componentGO:0042105 alpha-beta T cell receptor complex IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:1990782 protein tyrosine kinase binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0000689 Dental malocclusion "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
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 HP:0001094 Iridocyclitis 
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0001386 Joint swelling 
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 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
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 HP:0002186 Apraxia "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators]
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 HP:0002721 Immunodeficiency 
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 HP:0002829 Arthralgia 
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003565 Elevated erythrocyte sedimentation rate 
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 HP:0003593 Early onset 
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 HP:0004385 Protracted diarrhea 
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 HP:0005353 Susceptibility to herpesvirus 
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 HP:0005403 Reduced number of T cells 
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 HP:0005681 Rheumatoid arthritis, juvenile 
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 HP:0005764 Polyarticular arthritis 
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 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
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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  / reaction / complex
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / reaction / complex
 ENSG00000188211 Q68D85 / NCR3LG1 / natural killer cell cytotoxicity receptor 3 ligand 1  / reaction / complex
 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
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / reaction / complex
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / complex / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / reaction / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000189430 NCR1 / O76036 / natural cytotoxicity triggering receptor 1  / complex
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction
 ENSG00000158481 CD1C / P29017 / CD1c molecule  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000180370 PAK2 / Q13177 / p21 (RAC1) activated kinase 2  / complex / reaction
 ENSG00000155849 ELMO1 / Q92556 / engulfment and cell motility 1  / reaction / complex
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / reaction / complex
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / complex / reaction
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / reaction / complex
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / reaction
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / reaction / complex
 ENSG00000065675 PRKCQ / Q04759 / protein kinase C theta  / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / reaction / complex
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / reaction / complex
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000150760 DOCK1 / Q14185 / dedicator of cytokinesis 1  / complex / reaction
 ENSG00000158485 CD1B / P29016 / CD1b molecule  / reaction / complex
 ENSG00000204475 NCR3 / O14931 / natural cytotoxicity triggering receptor 3  / complex
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction / complex
 ENSG00000158473 CD1D / P15813 / CD1d molecule  / reaction / complex
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex / reaction
 ENSG00000062598 ELMO2 / Q96JJ3 / engulfment and cell motility 2  / complex / reaction
 ENSG00000203747 FCGR3A / P08637 / Fc fragment of IgG receptor IIIa  / complex
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000134242 PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22  / reaction
 ENSG00000150337 FCGR1A / P12314 / Fc fragment of IgG receptor Ia  / complex
 ENSG00000149177 PTPRJ / Q12913 / protein tyrosine phosphatase, receptor type J  / reaction






 

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