Gene Gene information from NCBI Gene database.
Entrez ID 3717
Gene name Janus kinase 2
Gene symbol JAK2
Synonyms (NCBI Gene)
JTK10
Chromosome 9
Chromosome location 9p24.1
Summary 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.
218
miRTarBase ID miRNA Experiments Reference
MIRT000707 hsa-miR-135a-5p Luciferase reporter assayWestern blot 19666866
MIRT000707 hsa-miR-135a-5p Luciferase reporter assay 19666866
MIRT001749 hsa-miR-375 Luciferase reporter assayWestern blot 20548334
MIRT001749 hsa-miR-375 Luciferase reporter assayWestern blot 20548334
MIRT001749 hsa-miR-375 Luciferase reporter assayWestern blot 20548334
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
BRCA1 Unknown 11163768
ESR1 Unknown 19876927
STAT1 Activation 21239533
STAT3 Activation 17151100
STAT3 Unknown 19783654
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
231
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000791 Component Euchromatin IEA
GO:0001774 Process Microglial cell activation IEA
GO:0001774 Process Microglial cell activation ISS
GO:0001819 Process Positive regulation of cytokine production IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147796 6192 ENSG00000096968
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Chemokine signaling pathway
Hormone signaling
Efferocytosis
PI3K-Akt signaling pathway
Necroptosis
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Cholinergic synapse
Prolactin signaling pathway
Adipocytokine signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis B
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
  Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
Prolactin receptor signaling
Signaling by SCF-KIT
RMTs methylate histone arginines
Interleukin-3, Interleukin-5 and GM-CSF signaling
RAF activation
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
IL-6-type cytokine receptor ligand interactions
Signaling by moderate kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Cyclin D associated events in G1
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-12 signaling
Interleukin-23 signaling
Interleukin-27 signaling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Erythropoietin activates RAS
Interleukin receptor SHC signaling
Signaling downstream of RAS mutants
Growth hormone receptor signaling
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
110
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acquired polycythemia vera Likely pathogenic; Pathogenic rs77375493 RCV000015769
Acute myeloid leukemia Likely pathogenic; Pathogenic rs77375493, rs121912472 RCV000015771
RCV000015773
Budd-Chiari syndrome, susceptibility to, somatic Likely pathogenic; Pathogenic rs77375493 RCV000015772
Hepatocellular carcinoma Likely pathogenic rs2488857097 RCV005930801
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenal cortex carcinoma - rs1819621092 RCV004813267
Budd-Chiari syndrome Conflicting classifications of pathogenicity; Uncertain significance rs139504737, rs529050943, rs1057515594, rs1038207109, rs1057515590, rs1057515597, rs139964957, rs1057515601 RCV005361741
RCV000296118
RCV000259492
RCV000309294
RCV000312900
RCV000282478
RCV000297888
RCV000406688
RCV000358210
Gastric cancer Uncertain significance rs754086152, rs1057519722 RCV005922708
RCV005937830
Hereditary breast ovarian cancer syndrome Uncertain significance rs149705816 RCV001374565
Associations from Text MiningDisease associations identified through Pubtator
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