ENSG00000115085


Homo sapiens

Features
Gene ID: ENSG00000115085
  
Biological name :ZAP70
  
Synonyms : P43403 / ZAP70 / zeta chain of T cell receptor associated protein kinase 70
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q11.2
Gene start: 97713560
Gene end: 97739862
  
Corresponding Affymetrix probe sets: 1555613_a_at (Human Genome U133 Plus 2.0 Array)   214032_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264972
Ensembl peptide - ENSP00000400475
NCBI entrez gene - 7535     See in Manteia.
OMIM - 176947
RefSeq - XM_017004870
RefSeq - NM_001079
RefSeq - NM_207519
RefSeq - XM_017004867
RefSeq - XM_017004868
RefSeq - XM_017004869
RefSeq Peptide - NP_997402
RefSeq Peptide - NP_001070
swissprot - P43403
Ensembl - ENSG00000115085
  
Related genetic diseases (OMIM): 269840 - Immunodeficiency 48, 269840
  617006 - Autoimmune disease, multisystem, infantile-onset, 2, 617006
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
 zap70ENSDARG00000015752Danio rerio
 ZAP70ENSGALG00000001486Gallus gallus
 Zap70ENSMUSG00000026117Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SYK / P43405 / spleen associated tyrosine kinaseENSG0000016502555
ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4ENSG0000017856825
ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3ENSG0000006536124
ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2ENSG0000014173624
PTK2 / Q05397 / protein tyrosine kinase 2ENSG0000016939823
EGFR / P00533 / epidermal growth factor receptorENSG0000014664823
PTK2B / Q14289 / protein tyrosine kinase 2 betaENSG0000012089922
TNK2 / Q07912 / tyrosine kinase non receptor 2ENSG0000006193820
TNK1 / Q13470 / tyrosine kinase non receptor 1ENSG0000017429219


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR000980  SH2 domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR012234  Tyrosine-protein kinase, non-receptor SYK/ZAP-70
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR023420  Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain superfamily
 IPR035838  SYK/ZAP-70, N-terminal SH2 domain
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006468 protein phosphorylation NAS
 biological_processGO:0006955 immune response IDA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IMP
 biological_processGO:0030217 T cell differentiation NAS
 biological_processGO:0035556 intracellular signal transduction NAS
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IBA
 biological_processGO:0042110 T cell activation TAS
 biological_processGO:0042113 B cell activation TAS
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0043366 beta selection IEA
 biological_processGO:0045059 positive thymic T cell selection IDA
 biological_processGO:0045060 negative thymic T cell selection IEA
 biological_processGO:0045061 thymic T cell selection IEA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0045582 positive regulation of T cell differentiation IDA
 biological_processGO:0046638 positive regulation of alpha-beta T cell differentiation IEA
 biological_processGO:0046641 positive regulation of alpha-beta T cell proliferation IEA
 biological_processGO:0046777 protein autophosphorylation IEA
 biological_processGO:0050850 positive regulation of calcium-mediated signaling IEA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0070489 T cell aggregation TAS
 biological_processGO:0072678 T cell migration TAS
 cellular_componentGO:0001772 immunological synapse IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 cellular_componentGO:0042101 T cell receptor complex IDA
 cellular_componentGO:0045121 membrane raft IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity TAS
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding NAS
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules


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]
Show

 HP:0000093 Proteinuria 
Show

 HP:0000100 Nephrotic syndrome 
Show

 HP:0000976 Eczematoid dermatitis 
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0002014 Diarrhea 
Show

 HP:0002090 Pneumonia 
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0003139 Panhypogammaglobulinemia 
Show

 HP:0003593 Early onset 
Show

 HP:0005401 Frequent candida infections 
Show

 HP:0012579 Minimal change glomerulonephritis "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / complex / reaction
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / complex / reaction
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / complex / reaction
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / reaction
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / complex / reaction
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / reaction
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / complex / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / complex / reaction
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / complex / reaction
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / complex / reaction
 ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase  / reaction
 ENSG00000134242 PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr