• Gene id: 3717

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: 5129947)     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 th
• 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: 130674
  • 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: (37..38-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (401..48-)
    (/note="SH-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (545..80-)
    1 (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR019749  IPR035963  IPR000299  IPR041155  IPR041046   IPR041381  IPR037838  IPR035860  IPR011009  IPR000719  IPR017441  IPR035588  IPR035589  IPR001245  IPR000980  IPR036860  IPR008266  IPR020635  IPR016251  IPR020693  
  • Prosite: PS50057 PS00107 PS50011 PS00109 PS50001
  • 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 5CF6 5CF8 5HEZ 5I4N 5L3A 5TQ3 5TQ4 5TQ5 5TQ6 5TQ7 5TQ8 5USY 5US
  • 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 5CF6 5CF8 5HEZ 5I4N 5L3A 5TQ3 5TQ4 5TQ5 5TQ6 5TQ7 5TQ8 5USY 5US
  • DIP: 33880
  • STRING: ENSP00000371067
• Other Databases: GeneCards:  JAK2  Malacards:  JAK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007259	receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0045348	positive regulation of MHC class II biosynthetic process	ISS	biological process
GO:0045428	regulation of nitric oxide biosynthetic process	ISS	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0010870	positive regulation of receptor biosynthetic process	ISS	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	ISS	biological process
GO:0001774	microglial cell activation	ISS	biological process
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	ISS	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0035409	histone H3-Y41 phosphorylation	IBA	biological process
GO:0030218	erythrocyte differentiation	IBA	biological process
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0005131	growth hormone receptor binding	IBA	molecular function
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0035401	histone kinase activity (H3-Y41 specific)	IBA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0035409	histone H3-Y41 phosphorylation	IDA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0035401	histone kinase activity (H3-Y41 specific)	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0042976	activation of Janus kinase activity	ISS	biological process
GO:0030218	erythrocyte differentiation	ISS	biological process
GO:0019221	cytokine-mediated signaling pathway	ISS	biological process
GO:0007165	signal transduction	ISS	biological process
GO:0004713	protein tyrosine kinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	NAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0007498	mesoderm development	TAS	biological process
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0007259	receptor signaling pathway via JAK-STAT	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0046677	response to antibiotic	IDA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IGI	biological process
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0038155	interleukin-23-mediated signaling pathway	TAS	biological process
GO:0046579	positive regulation of Ras protein signal transduction	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060334	regulation of interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	TAS	biological process
GO:0070106	interleukin-27-mediated signaling pathway	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0004672	protein kinase activity	TAS	molecular function
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: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: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:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0031904	endosome lumen	TAS	cellular component
GO:0070102	interleukin-6-mediated signaling pathway	TAS	biological process
GO:0070757	interleukin-35-mediated signaling pathway	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0005654	nucleoplasm	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: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: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: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: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: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: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: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: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: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:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	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:0005515	protein binding	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:0005515	protein binding	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005131	growth hormone receptor binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0007259	receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	biological process
GO:0009755	hormone-mediated signaling pathway	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0022408	negative regulation of cell-cell adhesion	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0031959	mineralocorticoid receptor signaling pathway	IEA	biological process
GO:0033130	acetylcholine receptor binding	IEA	molecular function
GO:0033194	response to hydroperoxide	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IEA	molecular function
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045822	negative regulation of heart contraction	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099527	postsynapse to nucleus signaling pathway	IEA	biological process
GO:1902728	positive regulation of growth factor dependent skeletal muscle satellite cell proliferation	IEA	biological process
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IEA	biological process
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0031103	axon regeneration	IEA	biological process
GO:0031702	type 1 angiotensin receptor binding	IEA	molecular function
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0032516	positive regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0045428	regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0050867	positive regulation of cell activation	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0051428	peptide hormone receptor binding	IEA	molecular function
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	IEA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	IEA	biological process
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	IEA	biological process
GO:1904037	positive regulation of epithelial cell apoptotic process	IEA	biological process
GO:0019901	protein kinase binding	IDA	molecular function
GO:0005131	growth hormone receptor binding	ISS	molecular function
GO:0005143	interleukin-12 receptor binding	ISS	molecular function
GO:0010811	positive regulation of cell-substrate adhesion	IDA	biological process
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0034612	response to tumor necrosis factor	IDA	biological process
GO:0050727	regulation of inflammatory response	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0070671	response to interleukin-12	IDA	biological process
GO:0005901	caveola	ISS	cellular component
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	ISS	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0030041	actin filament polymerization	NAS	biological process
GO:0030154	cell differentiation	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0061180	mammary gland epithelium development	ISS	biological process
GO:0097296	activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0035722	interleukin-12-mediated signaling pathway	IDA	biological process
GO:0006915	apoptotic process	ISS	biological process
GO:0007167	enzyme linked receptor protein signaling pathway	ISS	biological process
GO:0046425	regulation of receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0032496	response to lipopolysaccharide	ISS	biological process
GO:0032760	positive regulation of tumor necrosis factor production	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0043392	negative regulation of DNA binding	ISS	biological process
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	ISS	biological process
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0060399	positive regulation of growth hormone receptor signaling pathway	ISS	biological process
GO:0097191	extrinsic apoptotic signaling pathway	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa04062	Chemokine signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04659	Th17 cell differentiation
hsa05145	Toxoplasmosis
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa04920	Adipocytokine signaling pathway
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa04917	Prolactin signaling pathway
hsa05140	Leishmaniasis
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Polycythemia vera	KEGG:H00012
Budd-Chiari syndrome	KEGG:H01433
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Polycythemia vera	KEGG:H00012
Budd-Chiari syndrome	KEGG:H01433
Thrombosis	PMID:22467227
Myeloid neoplasm	PMID:15858187
Myeloid neoplasm	PMID:23845539
Portal hypertension	PMID:26385087
leukemia	PMID:9326218
Limited scleroderma	PMID:20808962
Essential thrombocythemia	PMID:23130336
Thrombocytosis	PMID:22467227
liver cancer	PMID:27788478
liver cancer	PMID:27788478
Myelofibrosis	PMID:22796437
hepatocellular carcinoma	PMID:25420511
Ankylosing spondylitis	PMID:20627814
Crohn's disease	PMID:22269120
Polycythemia vera	PMID:15781101
obesity	PMID:14630696
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq