Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3717
Gene Summary        Protein Summary        KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol JAK2   Gene   UCSC   Ensembl
Aliases JTK10, THCYT3
Gene name Janus kinase 2
Alternate names tyrosine-protein kinase JAK2, JAK-2, Janus kinase 2 (a protein tyrosine kinase),
Gene location 9p24.1 (4985085: 5128182)     Exons: 26     NC_000009.12
Gene summary(Entrez) This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]
OMIM 147796

Protein Summary

Protein general information O60674  

Name: Tyrosine-protein kinase JAK2 (EC 2.7.10.2) (Janus kinase 2) (JAK-2)

Length: 1132  Mass: 1,30,674

Tissue specificity: Ubiquitously expressed throughout most tissues. {ECO

Sequence MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSGEYVAEEICIAASKAC
GITPVYHNMFALMSETERIWYPPNHVFHIDESTRHNVLYRIRFYFPRWYCSGSNRAYRHGISRGAEAPLLDDFVM
SYLFAQWRHDFVHGWIKVPVTHETQEECLGMAVLDMMRIAKENDQTPLAIYNSISYKTFLPKCIRAKIQDYHILT
RKRIRYRFRRFIQQFSQCKATARNLKLKYLINLETLQSAFYTEKFEVKEPGSGPSGEEIFATIIITGNGGIQWSR
GKHKESETLTEQDLQLYCDFPNIIDVSIKQANQEGSNESRVVTIHKQDGKNLEIELSSLREALSFVSLIDGYYRL
TADAHHYLCKEVAPPAVLENIQSNCHGPISMDFAISKLKKAGNQTGLYVLRCSPKDFNKYFLTFAVERENVIEYK
HCLITKNENEEYNLSGTKKNFSSLKDLLNCYQMETVRSDNIIFQFTKCCPPKPKDKSNLLVFRTNGVSDVPTSPT
LQRPTHMNQMVFHKIRNEDLIFNESLGQGTFTKIFKGVRREVGDYGQLHETEVLLKVLDKAHRNYSESFFEAASM
MSKLSHKHLVLNYGVCVCGDENILVQEFVKFGSLDTYLKKNKNCINILWKLEVAKQLAWAMHFLEENTLIHGNVC
AKNILLIREEDRKTGNPPFIKLSDPGISITVLPKDILQERIPWVPPECIENPKNLNLATDKWSFGTTLWEICSGG
DKPLSALDSQRKLQFYEDRHQLPAPKWAELANLINNCMDYEPDFRPSFRAIIRDLNSLFTPDYELLTENDMLPNM
RIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIE
ILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTKRYIHR
DLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTY
IEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQ
IRDNMAG
Structural information
Protein Domains
FERM. (37-380)
SH (401-482)
({ECO:0000255|PROSITE-ProRule:PRU00191}-)
Protein (545-809)
Protein (849-1124)
Interpro:  IPR019749 IPR035963 IPR000299 IPR037838 IPR035860 IPR011009 IPR000719 IPR017441 IPR035588 IPR035589 IPR001245 IPR000980 IPR036860 IPR008266 IPR020635 IPR016251 IPR020693
Prosite:   PS50057 PS00107 PS50011 PS00109 PS50001

Pfam:  
PF07714 PF00017
CDD:   cd13333 cd05078 cd14205 cd10379

PDB:  
2B7A 2W1I 2XA4 3E62 3E63 3E64 3FUP 3IO7 3IOK 3JY9 3KCK 3KRR 3LPB 3Q32 3RVG 3TJC 3TJD 3UGC 3ZMM 4AQC 4BBE 4BBF 4C61 4C62 4D0W 4D0X 4D1S 4E4M 4E6D 4E6Q 4F08 4F09 4FVP 4FVQ 4FVR 4GFM 4GMY 4HGE 4IVA 4JI9 4JIA 4P7E 4YTC 4YTF 4YTH 4YTI 4Z32 4ZIM 5AEP 5CF4 5CF5
PDBsum:   2B7A 2W1I 2XA4 3E62 3E63 3E64 3FUP 3IO7 3IOK 3JY9 3KCK 3KRR 3LPB 3Q32 3RVG 3TJC 3TJD 3UGC 3ZMM 4AQC 4BBE 4BBF 4C61 4C62 4D0W 4D0X 4D1S 4E4M 4E6D 4E6Q 4F08 4F09 4FVP 4FVQ 4FVR 4GFM 4GMY 4HGE 4IVA 4JI9 4JIA 4P7E 4YTC 4YTF 4YTH 4YTI 4Z32 4ZIM 5AEP 5CF4 5CF5

DIP:  
33880
MINT:  
STRING:   ENSP00000371067;
Other Databases GeneCards:  JAK2;  Malacards:  JAK2

Gene ontology


GO accessionTerm nameEvidence codeGo category

KEGG pathways

hsa05140  Leishmaniasis
hsa04062  Chemokine signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cel
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04725  Cholinergic synapse
hsa05168  Herpes simplex infection
hsa05145  Toxoplasmosis
hsa04920  Adipocytokine signaling pathway
hsa05164  Influenza A
hsa04630  JAK-STAT signaling pathway
hsa05162  Measles
hsa04151  PI3K-Akt signaling pathway
hsa04217  Necroptosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05152  Tuberculosis
hsa05167  Kaposi sarcoma
hsa05200  Pathways in cancer
hsa04659  Th17 cell differentiation
hsa04658  Th1 and Th2 cell differentiation
hsa04917  Prolactin signaling pathway

Diseases

Associated diseases References
Endometriosis PMID: 23184927
Polycythemia vera KEGGH00012
Essential thrombocythemia KEGGH01612
Budd-Chiari syndrome KEGGH01433
Myelodysplastic syndrome KEGGH01481
Myelofibrosis KEGGH01605

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23184927 Endometrio
sis



Show abstract