ENSG00000113263


Homo sapiens

Features
Gene ID: ENSG00000113263
  
Biological name :ITK
  
Synonyms : IL2 inducible T cell kinase / ITK / Q08881
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q33.3
Gene start: 157142933
Gene end: 157255191
  
Corresponding Affymetrix probe sets: 211339_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398655
Ensembl peptide - ENSP00000431054
Ensembl peptide - ENSP00000430327
NCBI entrez gene - 3702     See in Manteia.
OMIM - 186973
RefSeq - NM_005546
RefSeq - XM_017009443
RefSeq Peptide - NP_005537
swissprot - E5RJY4
swissprot - E5RFR5
swissprot - Q08881
Ensembl - ENSG00000113263
  
Related genetic diseases (OMIM): 613011 - Lymphoproliferative syndrome 1, 613011
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
 itkENSDARG00000017565Danio rerio
 ITKENSGALG00000003857Gallus gallus
 ItkENSMUSG00000020395Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TEC / P42680 / tec protein tyrosine kinaseENSG0000013560558
BTK / Q06187 / Bruton tyrosine kinaseENSG0000001067152
BMX / P51813 / BMX non-receptor tyrosine kinaseENSG0000010201048
TXK / P42681 / TXK tyrosine kinaseENSG0000007496646
ABL2 / P42684 / ABL proto-oncogene 2, non-receptor tyrosine kinaseENSG0000014332230
ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinaseENSG0000009700729
FES / P07332 / FES proto-oncogene, tyrosine kinaseENSG0000018251129
FER / P16591 / FER tyrosine kinaseENSG0000015142229
MATK / P42679 / megakaryocyte-associated tyrosine kinaseENSG0000000726425
CSK / P41240 / C-terminal Src kinaseENSG0000010365324


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR000980  SH2 domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001452  SH3 domain
 IPR001562  Zinc finger, Btk motif
 IPR001849  Pleckstrin homology domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR011993  PH-like domain superfamily
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR035583  Tyrosine-protein kinase ITK, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001816 cytokine production IEA
 biological_processGO:0001865 NK T cell differentiation IEA
 biological_processGO:0002250 adaptive immune response ISS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006968 cellular defense response TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA
 biological_processGO:0007202 activation of phospholipase C activity IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0032609 interferon-gamma production IEA
 biological_processGO:0032633 interleukin-4 production IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IBA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0042110 T cell activation TAS
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0050852 T cell receptor signaling pathway IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Generation of second messenger molecules
FCERI mediated Ca+2 mobilization


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:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001876 Pancytopenia 
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 HP:0001903 Anemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002719 Recurrent infections 
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 HP:0002960 Autoimmune disease 
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 HP:0003565 Elevated erythrocyte sedimentation rate 
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 HP:0003621 Juvenile onset 
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0010280 Stomatitis "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators]
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 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / reaction / complex
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase  / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2  / reaction / complex
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / reaction / complex
 ENSG00000213658 LAT / O43561 / linker for activation of T cells  / complex / reaction
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / reaction / complex
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / reaction
 ENSG00000135605 TEC / P42680 / tec protein tyrosine kinase  / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000113263 ITK / Q08881 / IL2 inducible T cell kinase  / reaction






 

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