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JAK2 (Janus kinase 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3717
Gene nameGene Name - the full gene name approved by the HGNC.
Janus kinase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
JAK2
SynonymsGene synonyms aliases
JTK10
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.1
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cervical cancer cervical cancer rs28934571, rs121913482, rs121913483 27470402
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291
Erythrocytosis Erythrocytosis familial, 1 rs119476044, rs119476045, rs137853036, rs137853037, rs35020585, rs33949869, rs33987903, rs36020563, rs35890959, rs1141387, rs35117167, rs33969677, rs33918338, rs33951978, rs33954595, rs33945777, rs35724775, rs35004220, rs34690599, rs33978134, rs1554393463, rs1554393458, rs1018129986, rs1596573335
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
B-cell lymphoma Adult Diffuse Large B-Cell Lymphoma
Budd-chiari syndrome Budd-Chiari Syndrome rs6025, rs9332701, rs6009, rs369516642, rs9332607, rs9287090, rs1046712, rs1800594, rs6032, rs4525, rs6018, rs6031, rs6021, rs6024, rs6017, rs6016, rs6037, rs6036, rs6015, rs6033, rs9332578, rs6023, rs6022, rs6029, rs6019, rs6028, rs2187952, rs75764442, rs9332678, rs191866237, rs9332673, rs188490117, rs886045539, rs886045540, rs773618429, rs886045543, rs148772659, rs200865371, rs149092241, rs6026, rs6011, rs144262027, rs13306334, rs139573207, rs13306332, rs369276714, rs6005, rs144979314, rs201078171, rs758832130, rs748350385, rs148752831, rs143152035, rs145625079, rs886045534, rs72708013, rs886045536, rs544753372, rs72708017, rs886045537, rs181328696, rs186962725, rs757104503, rs35369423, rs759428783, rs6008, rs199568344, rs141589936, rs751749207, rs886045547, rs149048805, rs886045548, rs149067268, rs199507543, rs9332695, rs370739570, rs375739973, rs537081933, rs9332485, rs41272465, rs886045552, rs9332677, rs9332675, rs376103455, rs6427196, rs886045535, rs559071301, rs753366128, rs9332676, rs2040444, rs9332674, rs886045538, rs534748300, rs180742904, rs115882472, rs886045541, rs372005449, rs182566496, rs886045542, rs374815777, rs886045544, rs886045545, rs6010, rs886045546, rs763080313, rs200204656, rs559683767, rs543751483, rs373880789, rs6006, rs41272457, rs115148599, rs9332608, rs188882337, rs886045549, rs146408488, rs575766548, rs776949074, rs141768227, rs9332604, rs886045550, rs574610215, rs1557573, rs201510575, rs112333778, rs886045551, rs6020, rs781434840, rs200934105, rs116416322, rs543172813, rs529050943, rs1057515594, rs1038207109, rs1057515590, rs1057515597, rs139964957, rs1057515601, rs143509841, rs41272455, rs373172802, rs6007, rs6034, rs150104888, rs747456938, rs185294741 16762626, 19293426, 23425079, 26557140, 25698270, 18600100, 23980667
Cardiac valvular disease Heart valve disease 21335463

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