ENSG00000105397


Homo sapiens

Features
Gene ID: ENSG00000105397
  
Biological name :TYK2
  
Synonyms : P29597 / TYK2 / tyrosine kinase 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 10350529
Gene end: 10380676
  
Corresponding Affymetrix probe sets: 205546_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433203
Ensembl peptide - ENSP00000434831
Ensembl peptide - ENSP00000466340
Ensembl peptide - ENSP00000465291
Ensembl peptide - ENSP00000436826
Ensembl peptide - ENSP00000436175
Ensembl peptide - ENSP00000434931
Ensembl peptide - ENSP00000264818
Ensembl peptide - ENSP00000431885
Ensembl peptide - ENSP00000432320
Ensembl peptide - ENSP00000432728
NCBI entrez gene - 7297     See in Manteia.
OMIM - 176941
RefSeq - XM_011528252
RefSeq - NM_003331
RefSeq - XM_011528245
RefSeq - XM_011528246
RefSeq - XM_011528247
RefSeq - XM_011528249
RefSeq - XM_011528251
RefSeq Peptide - NP_003322
swissprot - K7EJR6
swissprot - E9PQL2
swissprot - P29597
swissprot - K7EM33
swissprot - E9PQE9
swissprot - E9PPF2
swissprot - E9PM19
swissprot - A0A024R7E4
swissprot - H0YCT7
swissprot - H0YE24
swissprot - H0YE41
Ensembl - ENSG00000105397
  
Related genetic diseases (OMIM): 611521 - Immunodeficiency 35, 611521
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
 tyk2ENSDARG00000020326Danio rerio
 Tyk2ENSMUSG00000032175Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
JAK1 / P23458 / Janus kinase 1ENSG0000016243444
JAK2 / O60674 / Janus kinase 2ENSG0000009696837
JAK3 / P52333 / Janus kinase 3ENSG0000010563937


Protein motifs (from Interpro)
Interpro ID Name
 IPR000299  FERM domain
 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
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR016045  Tyrosine-protein kinase, non-receptor, TYK2, N-terminal
 IPR016251  Tyrosine-protein kinase, non-receptor Jak/Tyk2
 IPR017441  Protein kinase, ATP binding site
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR035963  FERM superfamily, second domain
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IBA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IBA
 biological_processGO:0038155 interleukin-23-mediated signaling pathway TAS
 biological_processGO:0042127 regulation of cell proliferation IBA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0060337 type I interferon signaling pathway TAS
 biological_processGO:0060338 regulation of type I interferon-mediated signaling pathway TAS
 biological_processGO:0070106 interleukin-27-mediated signaling pathway TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 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 IBA
 molecular_functionGO:0005131 growth hormone receptor binding IPI
 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:0031702 type 1 angiotensin receptor binding IEA


Pathways (from Reactome)
Pathway description
Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
Other interleukin signaling
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
IL-6-type cytokine receptor ligand interactions
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-12 signaling
Interleukin-23 signaling
Interleukin-27 signaling
Interferon alpha/beta signaling
Regulation of IFNA 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:0002205 Recurrent respiratory infections 
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 HP:0002721 Immunodeficiency 
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 HP:0002841 Fungal infections, recurrent 
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 HP:0003212 Increased IgE level "An abnormally increased level of immunoglobulin E in blood." [HPO:probinson]
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 HP:0004429 Recurrent viral infections 
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 HP:0011274 Recurrent mycobacterial infections "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000077238 IL4R / P24394 / interleukin 4 receptor  / reaction / complex
 ENSG00000110944 IL23A / Q9NPF7 / interleukin 23 subunit alpha  / complex
 ENSG00000110324 IL10RA / Q13651 / interleukin 10 receptor subunit alpha  / complex / reaction
 ENSG00000113302 IL12B / P29460 / interleukin 12B  / complex / reaction
 ENSG00000183709 IFNL2 / Q8IZJ0 / interferon lambda 2  / complex
 ENSG00000159110 IFNAR2 / P48551 / interferon alpha and beta receptor subunit 2  / complex / reaction
 ENSG00000104998 IL27RA / Q6UWB1 / interleukin 27 receptor subunit alpha  / complex
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex
 ENSG00000096996 P42701 / IL12RB1 / interleukin 12 receptor subunit beta 1  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / reaction / complex
 ENSG00000197272 IL27 / Q8NEV9 / interleukin 27  / complex
 ENSG00000171150 SOCS5 / O75159 / suppressor of cytokine signaling 5  / complex / reaction
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / reaction / complex
 ENSG00000016402 IL20RA / Q9UHF4 / interleukin 20 receptor subunit alpha  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction / complex
 ENSG00000142677 Q8N6P7 / IL22RA1 / interleukin 22 receptor subunit alpha 1  / reaction / complex
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / reaction / complex
 ENSG00000171855 IFNB1 / P01574 / interferon beta 1  / complex / reaction
 ENSG00000113520 IL4 / P05112 / interleukin 4  / complex / reaction
 ENSG00000127318 IL22 / Q9GZX6 / interleukin 22  / reaction / complex
 ENSG00000243646 IL10RB / Q08334 / interleukin 10 receptor subunit beta  / complex / reaction
 ENSG00000081985 Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2  / reaction / complex
 ENSG00000105397 TYK2 / P29597 / tyrosine kinase 2  / reaction / complex
 ENSG00000182393 IFNL1 / Q8IU54 / interferon lambda 1  / complex / reaction
 ENSG00000197110 IFNL3 / Q8IZI9 / interferon lambda 3  / complex
 ENSG00000166888 STAT6 / P42226 / signal transducer and activator of transcription 6  / complex / reaction
 ENSG00000136634 IL10 / P22301 / interleukin 10  / complex / reaction
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / reaction / complex
 ENSG00000170581 STAT2 / P52630 / signal transducer and activator of transcription 2  / reaction / complex
 ENSG00000168811 IL12A / P29459 / interleukin 12A  / complex / reaction
 ENSG00000185436 IFNLR1 / Q8IU57 / interferon lambda receptor 1  / complex / reaction
 ENSG00000162594 IL23R / Q5VWK5 / interleukin 23 receptor  / complex
 ENSG00000111536 IL26 / Q9NPH9 / interleukin 26  / complex / reaction
 ENSG00000169194 IL13 / P35225 / interleukin 13  / complex / reaction
 ENSG00000105246 EBI3 / Q14213 / Epstein-Barr virus induced 3  / complex
 ENSG00000142166 IFNAR1 / P17181 / interferon alpha and beta receptor subunit 1  / complex
 ENSG00000184557 SOCS3 / O14543 / suppressor of cytokine signaling 3  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000185338 SOCS1 / O15524 / suppressor of cytokine signaling 1  / complex / reaction
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / complex / reaction
 ENSG00000131724 P78552 / IL13RA1 / interleukin 13 receptor subunit alpha 1  / complex / reaction
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction






 

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