Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3717
Gene name Gene Name - the full gene name approved by the HGNC.
Janus kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JAK2
Synonyms (NCBI Gene) Gene synonyms aliases
JTK10
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000707 hsa-miR-135a-5p Luciferase reporter assay, Western blot 19666866
MIRT000707 hsa-miR-135a-5p Luciferase reporter assay 19666866
MIRT001749 hsa-miR-375 Luciferase reporter assay, Western blot 20548334
MIRT001749 hsa-miR-375 Luciferase reporter assay, Western blot 20548334
MIRT001749 hsa-miR-375 Luciferase reporter assay, Western blot 20548334
Transcription factors
Transcription factor Regulation Reference
BRCA1 Unknown 11163768
ESR1 Unknown 19876927
STAT1 Activation 21239533
STAT3 Activation 17151100
STAT3 Unknown 19783654
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000186 Process Activation of MAPKK activity IEA
GO:0000791 Component Euchromatin IEA
GO:0001774 Process Microglial cell activation ISS
GO:0002250 Process Adaptive immune response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147796 6192 ENSG00000096968
Protein
UniProt ID O60674
Protein name Tyrosine-protein kinase JAK2 (EC 2.7.10.2) (Janus kinase 2) (JAK-2)
Protein function Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal ro
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18379 FERM_F1 39 134 FERM F1 ubiquitin-like domain Domain
PF18377 FERM_F2 142 261 FERM F2 acyl-CoA binding protein-like domain Domain
PF17887 Jak1_Phl 299 381 Jak1 pleckstrin homology-like domain Domain
PF00017 SH2 400 481 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 545 805 Protein tyrosine and serine/threonine kinase Domain
PF07714 PK_Tyr_Ser-Thr 849 1123 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed throughout most tissues. {ECO:0000269|PubMed:16424865}.
Sequence
MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSG
EYVAEEICIAASKACGITPVYHNMFALMSETERIWYPPNHVFHIDESTRHNVLYRIRFYF
PRWYCSGSNRAYRH
GISRGAEAPLLDDFVMSYLFAQWRHDFVHGWIKVPVTHETQEECLG
MAVLDMMRIAKENDQTPLAIYNSISYKTFLPKCIRAKIQDYHILTRKRIRYRFRRFIQQF
SQCKATARNLKLKYLINLETL
QSAFYTEKFEVKEPGSGPSGEEIFATIIITGNGGIQWSR
GKHKESETLTEQDLQLYCDFPNIIDVSIKQANQEGSNESRVVTIHKQDGKNLEIELSSLR
EALSFVSLIDGYYRLTADAHH
YLCKEVAPPAVLENIQSNCHGPISMDFAISKLKKAGNQT
GLYVLRCSPKDFNKYFLTFAVERENVIEYKHCLITKNENEEYNLSGTKKNFSSLKDLLNC
Y
QMETVRSDNIIFQFTKCCPPKPKDKSNLLVFRTNGVSDVPTSPTLQRPTHMNQMVFHKI
RNEDLIFNESLGQGTFTKIFKGVRREVGDYGQLHETEVLLKVLDKAHRNYSESFFEAASM
MSKLSHKHLVLNYGVCVCGDENILVQEFVKFGSLDTYLKKNKNCINILWKLEVAKQLAWA
MHFLEENTLIHGNVCAKNILLIREEDRKTGNPPFIKLSDPGISITVLPKDILQERIPWVP
PECIENPKNLNLATDKWSFGTTLWEICSGGDKPLSALDSQRKLQFYEDRHQLPAPKWAEL
ANLINNCMDYEPDFRPSFRAIIRDL
NSLFTPDYELLTENDMLPNMRIGALGFSGAFEDRD
PTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIE
ILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQI
CKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFW
YAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIE
LLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRV
DQIRDNMAG
Sequence length 1132
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Thrombocytosis familial thrombocytosis GenCC
Eczema Eczema GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Crohn Disease Crohn Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Injuries Associate 17263783
Ablepharon macrostomia syndrome Associate 39457093
Abnormalities Drug Induced Associate 27389715
Acquired ichthyosis Associate 36303457
Acute erythroleukemia Associate 10340405
Acute Lung Injury Associate 37864659
Adenocarcinoma of Lung Associate 27025877, 28639892, 31844068, 32515474, 35140701, 36127737, 36990047, 38225784
Adenoma Pleomorphic Associate 27286739
Adjustment Disorders Associate 23695894
Aicardi Goutieres syndrome Associate 37171742