Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7297
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol TYK2   Gene   UCSC   Ensembl
Aliases IMD35, JTK1
Gene name tyrosine kinase 2
Alternate names non-receptor tyrosine-protein kinase TYK2,
Gene location 19p13.2 (10380571: 10350527)     Exons: 29     NC_000019.10
Gene summary(Entrez) This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]
OMIM 176941

SNPs

 rs280523

Strand: +   Allele origin: germline,germline  Allele change: A/C/G   Mutation type: snp

NC_000019.10   g.10366530G>A
NC_000019.9   g.10477206G>A
NG_007872.1   g.19043C>T
NM_003331.4   c.516C>T
NP_003322.3   p.Thr172=
XM_005260049.1   c.516C>T
XM_011528245.1   c.516C>T
XM_011528247.1   c.219C>T
XM_011528246.2   c.219C>T
XM_011528251.1   c.-2095C>T
XM_011528252.1  
Clinical Significance: Likely benign

rs2304256

Strand: +   Allele origin: unknown  Allele change: A/C   Mutation type: snp

NC_000019.9   g.10475652C>A
NC_000019.10   g.10364976C>A
NG_007872.1   g.20597G>T
NM_003331.4   c.1084G>T
NP_003322.3   p.Val362Phe
XM_005260049.1   c.1084G>T
XM_011528245.1   c.1084G>T
XM_011528247.1   c.787G>T
XM_011528249.2   c.-849G>T
XM_011528246.2   c.787G>T
XM_0115282  
Clinical Significance: Benign

rs12720270

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000019.10   g.10365084G>A
NC_000019.9   g.10475760G>A
NG_007872.1   g.20489C>T
NM_003331.4   c.1012-36C>T
XM_005260049.1   c.1012-36C>T
XM_011528252.1   c.1012-36C>T
XM_011528251.1   c.-649C>T
XM_011528246.2   c.715-36C>T
XM_011528247.1   c.715-36C>T
XM_011528249.2   c.-9
rs12720356

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000019.10   g.10359299A>C
NC_000019.9   g.10469975A>C
NG_007872.1   g.26274T>G
NM_003331.4   c.2051T>G
NP_003322.3   p.Ile684Ser
XM_005260049.1   c.2051T>G
XM_011528249.2   c.725T>G
XM_011528251.1   c.308T>G
XM_011528245.1   c.2051T>G
XM_011528247.1   c.1754T>G
XM_0115282  
Clinical Significance: Likely benign

rs34536443

Strand: +   Allele origin: germline,germline  Allele change: C/G   Mutation type: snp

  
NG_007872.1   g.33131C>G
NC_000019.10   g.10352442G>C
NC_000019.9   g.10463118G>C
NM_003331.4   c.3310C>G
NP_003322.3   p.Pro1104Ala
XM_005260049.1   c.3310C>G
XM_011528245.1   c.3310C>G
XM_011528246.2   c.3013C>G
XM_011528249.2   c.1984C>G
XM_011528247.1   c.3013C>G
XM_011  
Clinical Significance: Likely benign

Protein Summary
Protein general information P29597  

Name: Non receptor tyrosine protein kinase TYK2 (EC 2.7.10.2)

Length: 1187  Mass: 133,650

Tissue specificity: Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines. {ECO

Sequence MPLRHWGMARGSKPVGDGAQPMAAMGGLKVLLHWAGPGGGEPWVTFSESSLTAEEVCIHIAHKVGITPPCFNLFA
LFDAQAQVWLPPNHILEIPRDASLMLYFRIRFYFRNWHGMNPREPAVYRCGPPGTEASSDQTAQGMQLLDPASFE
YLFEQGKHEFVNDVASLWELSTEEEIHHFKNESLGMAFLHLCHLALRHGIPLEEVAKKTSFKDCIPRSFRRHIRQ
HSALTRLRLRNVFRRFLRDFQPGRLSQQMVMVKYLATLERLAPRFGTERVPVCHLRLLAQAEGEPCYIRDSGVAP
TDPGPESAAGPPTHEVLVTGTGGIQWWPVEEEVNKEEGSSGSSGRNPQASLFGKKAKAHKAVGQPADRPREPLWA
YFCDFRDITHVVLKEHCVSIHRQDNKCLELSLPSRAAALSFVSLVDGYFRLTADSSHYLCHEVAPPRLVMSIRDG
IHGPLLEPFVQAKLRPEDGLYLIHWSTSHPYRLILTVAQRSQAPDGMQSLRLRKFPIEQQDGAFVLEGWGRSFPS
VRELGAALQGCLLRAGDDCFSLRRCCLPQPGETSNLIIMRGARASPRTLNLSQLSFHRVDQKEITQLSHLGQGTR
TNVYEGRLRVEGSGDPEEGKMDDEDPLVPGRDRGQELRVVLKVLDPSHHDIALAFYETASLMSQVSHTHLAFVHG
VCVRGPENIMVTEYVEHGPLDVWLRRERGHVPMAWKMVVAQQLASALSYLENKNLVHGNVCGRNILLARLGLAEG
TSPFIKLSDPGVGLGALSREERVERIPWLAPECLPGGANSLSTAMDKWGFGATLLEICFDGEAPLQSRSPSEKEH
FYQRQHRLPEPSCPQLATLTSQCLTYEPTQRPSFRTILRDLTRLQPHNLADVLTVNPDSPASDPTVFHKRYLKKI
RDLGEGHFGKVSLYCYDPTNDGTGEMVAVKALKADCGPQHRSGWKQEIDILRTLYHEHIIKYKGCCEDQGEKSLQ
LVMEYVPLGSLRDYLPRHSIGLAQLLLFAQQICEGMAYLHAQHYIHRDLAARNVLLDNDRLVKIGDFGLAKAVPE
GHEYYRVREDGDSPVFWYAPECLKEYKFYYASDVWSFGVTLYELLTHCDSSQSPPTKFLELIGIAQGQMTVLRLT
ELLERGERLPRPDKCPCEVYHLMKNCWETEASFRPTFENLIPILKTVHEKYQGQAPSVFSVC
Structural information
Protein Domains
 FERM. (26-431)
SH (450-529)
(-)
Protein (589-875)
Protein (897-1176)
Interpro:  IPR019749 IPR014352 IPR019748 IPR000299 IPR011009 IPR011993 IPR000719 IPR017441 IPR001245 IPR000980 IPR008266 IPR020635 IPR016251 IPR016045
Prosite:   PS50057 PS00107 PS50011 PS00109

Pfam:  		 PF07714

PDB:  		 3LXN 3LXP 3NYX 3NZ0 3ZON 4GFO 4GIH 4GII 4GJ2 4GJ3 4GVJ 4OLI 4PO6 4PY1 4WOV 5C01 5C03 5F1Z 5F20 5TKD
PDBsum:   3LXN 3LXP 3NYX 3NZ0 3ZON 4GFO 4GIH 4GII 4GJ2 4GJ3 4GVJ 4OLI 4PO6 4PY1 4WOV 5C01 5C03 5F1Z 5F20 5TKD

DIP:  		 1062
MINT:   107878
STRING:   ENSP00000264818;
Other Databases GeneCards:  TYK2;  Malacards:  TYK2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0004715 non-membrane spanning pro
tein tyrosine kinase acti
vity
 IEA molecular_function
GO:0005131 growth hormone receptor b
inding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005856 cytoskeleton
 IEA cellular_component
GO:0006468 protein phosphorylation
 TAS biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
 IBA biological_process
GO:0016477 cell migration
 IBA biological_process
GO:0030154 cell differentiation
 IBA biological_process
GO:0031234 extrinsic component of cy
toplasmic side of plasma
membrane
 IBA cellular_component
GO:0031702 type 1 angiotensin recept
or binding
 IEA molecular_function
GO:0035556 intracellular signal tran
sduction
 IEA biological_process
GO:0038083 peptidyl-tyrosine autopho
sphorylation
 IBA biological_process
GO:0042127 regulation of cell prolif
eration
 IBA biological_process
GO:0045087 innate immune response
 IBA biological_process
GO:0060337 type I interferon signali
ng pathway
 TAS biological_process
GO:0060338 regulation of type I inte
rferon-mediated signaling
pathway
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0004672 protein kinase activity
 IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0004715 non-membrane spanning pro
tein tyrosine kinase acti
vity
 IEA molecular_function
GO:0004715 non-membrane spanning pro
tein tyrosine kinase acti
vity
 IEA molecular_function
GO:0004715 non-membrane spanning pro
tein tyrosine kinase acti
vity
 TAS molecular_function
GO:0005131 growth hormone receptor b
inding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005856 cytoskeleton
 IEA cellular_component
GO:0006468 protein phosphorylation
 IEA biological_process
GO:0006468 protein phosphorylation
 TAS biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
 IBA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016301 kinase activity
 IEA molecular_function
GO:0016310 phosphorylation
 IEA biological_process
GO:0016477 cell migration
 IBA biological_process
GO:0016740 transferase activity
 IEA molecular_function
GO:0030154 cell differentiation
 IBA biological_process
GO:0031234 extrinsic component of cy
toplasmic side of plasma
membrane
 IBA cellular_component
GO:0031702 type 1 angiotensin recept
or binding
 IEA molecular_function
GO:0035556 intracellular signal tran
sduction
 IEA biological_process
GO:0038083 peptidyl-tyrosine autopho
sphorylation
 IBA biological_process
GO:0042127 regulation of cell prolif
eration
 IBA biological_process
GO:0045087 innate immune response
 IBA biological_process
GO:0060337 type I interferon signali
ng pathway
 TAS biological_process
GO:0060338 regulation of type I inte
rferon-mediated signaling
pathway
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 EXP molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0004715 non-membrane spanning pro
tein tyrosine kinase acti
vity
 TAS molecular_function
GO:0005131 growth hormone receptor b
inding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006468 protein phosphorylation
 TAS biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
 IBA biological_process
GO:0016477 cell migration
 IBA biological_process
GO:0030154 cell differentiation
 IBA biological_process
GO:0031234 extrinsic component of cy
toplasmic side of plasma
membrane
 IBA cellular_component
GO:0038083 peptidyl-tyrosine autopho
sphorylation
 IBA biological_process
GO:0042127 regulation of cell prolif
eration
 IBA biological_process
GO:0045087 innate immune response
 IBA biological_process
GO:0060337 type I interferon signali
ng pathway
 TAS biological_process
GO:0060338 regulation of type I inte
rferon-mediated signaling
pathway
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05164  Influenza A
hsa04630  Jak-STAT signaling pathway
hsa05145  Toxoplasmosis
hsa04621  NOD-like receptor signaling pathway
hsa04659  Th17 cell differentiation
hsa05162  Measles
hsa04380  Osteoclast differentiation
hsa05160  Hepatitis C
hsa04658  Th1 and Th2 cell differentiation
hsa04217  Necroptosis

Diseases

Associated diseases References
Cancer PMID: 18270328
Crohn's disease PMID: 21102463
Diabetes PMID: 21829393
Endometriosis PMID: 23000200
Immunodeficiency syndromes KEGG: H00107
Endometriosis associated infertility INFBASE23000200
Endometriosis INFBASE23000200
Male infertility PMID: 11476770
Psoriasis PMID: 20953190
Rheumatoid arthritis PMID: 17599733
Systemic lupus erythematosus PMID: 15657875

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23000200 Endometrio
sis
 TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356)
674 (275 infert
ile women with
endometriosis,
92 women with i
diopathic infer
tility and 307
fertile women a
s controls)
 Female infertility TYK2
 Show abstract