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    JAK2 Janus kinase 2 [ Homo sapiens (human) ]

    Gene ID: 3717, updated on 19-May-2013
    Official Symbol
    JAK2provided by HGNC
    Official Full Name
    Janus kinase 2provided by HGNC
    Primary source
    HGNC:6192
    See related
    Ensembl:ENSG00000096968; HPRD:00993; MIM:147796; Vega:OTTHUMG00000019490
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JTK10; THCYT3
    Summary
    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]
    Location :
    9p24
    Sequence :
    Chromosome: 9; NC_000009.11 (4985245..5128183)
    See JAK2 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene RNA terminal phosphate cyclase-like 1 Neighboring gene microRNA 101-2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1-like 2 pseudogene Neighboring gene casein kinase 1, gamma 2 pseudogene Neighboring gene polyprenyl pyrophosphate synthetase pseudogene Neighboring gene transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) pseudogene Neighboring gene MT-ND1 pseudogene 11 Neighboring gene MT-ND4 pseudogene 14 Neighboring gene MT-ND5 pseudogene 14 Neighboring gene immunoglobulin heavy constant epsilon P2 (pseudogene) Neighboring gene insulin-like 6 Neighboring gene insulin-like 4 (placenta)

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    AML - Acute myeloid leukemia

    Summary from GeneReviews: Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA Go to GeneReviews

    Disease Characteristics
    Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.
    Diagnosis Testing
    CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA. Molecular genetic testing of CEBPA is available on a clinical basis.
    Genetic Counseling
    Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. No laboratories offering molecular genetic testing for prenatal diagnosis of familial AML with mutated CEBPA are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing germline mutation has been identified. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common.
    References

    NHGRI GWAS Catalog

    show more
    Products Interactant Other Gene Complex Source Pubs Description
    NP_004963.1 NP_005205.2 CTLA4    BIND  PubMed CTLA-4 interacts with Jak2. 
    NP_004963.1 AAL35323.1 DNAJA3    BIND  PubMed JAK2 interacts with Tid-1S. 
    NP_004963.1 NP_001550.1 IL12RB2    BIND  PubMed JAK2 interacts with IL12RB2. 
    O60674 P00519 ABL1    HPRD  PubMed  
    O60674 P30556 AGTR1    HPRD  PubMed  
    O60674 P11274 BCR    HPRD  PubMed  
    O60674 P38398 BRCA1    HPRD  PubMed  
    O60674 P41597 CCR2    HPRD  PubMed  
    O60674 P51681 CCR5    HPRD  PubMed  
    O60674 Q9HC73 CRLF2    HPRD  PubMed  
    O60674 P32927 CSF2RB    HPRD  PubMed  
    O60674 Q99062 CSF3R    HPRD  PubMed  
    O60674 P16410 CTLA4    HPRD  PubMed  
    O60674 P61073 CXCR4    HPRD  PubMed  
    O60674 Q96EY1 DNAJA3    HPRD  PubMed  
    O60674 P00533 EGFR    HPRD  PubMed  
    O60674 Q6IA86 ELP2    HPRD  PubMed  
    O60674 P19235 EPOR    HPRD  PubMed  
    O60674 P04626 ERBB2    HPRD  PubMed  
    O60674 P07332 FES    HPRD  PubMed  
    O60674 P06241 FYN    HPRD  PubMed  
    O60674 P10912 GHR    HPRD  PubMed  
    O60674 Q13322 GRB10    HPRD  PubMed  
    O60674 P62993 GRB2    HPRD  PubMed  
    O60674 P78347 GTF2I    HPRD  PubMed  
    O60674 Q14469 HES1    HPRD  PubMed  
    O60674 Q5TA89 HES5    HPRD  PubMed  
    O60674 P11142 HSPA8    HPRD  PubMed  
    O60674 P28223 HTR2A    HPRD  PubMed  
    O60674 P15260 IFNGR1    HPRD  PubMed  
    O60674 P38484 IFNGR2    HPRD  PubMed  
    O60674 P08069 IGF1R    HPRD  PubMed  
    O60674 Q99665 IL12RB2    HPRD  PubMed  
    O60674 Q5VWK5 IL23R    HPRD  PubMed  
    O60674 P26951 IL3RA    HPRD  PubMed  
    O60674 P24394 IL4R    HPRD  PubMed  
    O60674 Q01344 IL5RA    HPRD  PubMed  
    O60674 P06213 INSR    HPRD  PubMed  
    O60674 P35568 IRS1    HPRD  PubMed  
    O60674 Q9Y4H2 IRS2    HPRD  PubMed  
    O60674 O60674 JAK2    HPRD  PubMed  
    O60674 P52333 JAK3    HPRD  PubMed  
    O60674 P10721 KIT    HPRD  PubMed  
    O60674 P48357 LEPR    HPRD  PubMed  
    O60674 P07948 LYN    HPRD  PubMed  
    O60674 P21741 MDK    HPRD  PubMed  
    O60674 P40238 MPL    HPRD  PubMed  
    O60674 Q04912 MST1R    HPRD  PubMed  
    O60674 P25963 NFKBIA    HPRD  PubMed  
    O60674 Q99650 OSMR    HPRD  PubMed  
    O60674 P09619 PDGFRB    HPRD  PubMed  
    O60674 P27986 PIK3R1    HPRD  PubMed  
    O60674 P98161 PKD1    HPRD  PubMed  
    O60674 P16885 PLCG2    HPRD  PubMed  
    O60674 P62937 PPIA    HPRD  PubMed  
    O60674 Protein phosphatase 2A, catalytic subunit, alpha isoform PPP2CA    HPRD  PubMed  
    O60674 P30154 PPP2R1B    HPRD  PubMed  
    O60674 Q15172 PPP2R5A    HPRD  PubMed  
    O60674 P16471 PRLR    HPRD  PubMed  
    O60674 O14744 PRMT5    HPRD  PubMed  
    O60674 Q05397 PTK2    HPRD  PubMed  
    O60674 Q14289 PTK2B    HPRD  PubMed  
    O60674 P18031 PTPN1    HPRD  PubMed  
    O60674 Q06124 PTPN11    HPRD  PubMed  
    O60674 Q05209 PTPN12    HPRD  PubMed  
    O60674 P29350 PTPN6    HPRD  PubMed  
    O60674 P08575 PTPRC    HPRD  PubMed  
    O60674 P04049 RAF1    HPRD  PubMed  
    O60674 SH2 B homolog SH2B1    HPRD  PubMed  
    O60674 O14492 SH2B2    HPRD  PubMed  
    O60674 P29353 SHC1    HPRD  PubMed  
    O60674 P78324 SIRPA    HPRD  PubMed  
    O60674 O15524 SOCS1    HPRD  PubMed  
    O60674 O14543 SOCS3    HPRD  PubMed  
    O60674 Q92783 STAM    HPRD  PubMed  
    O60674 O75886 STAM2    HPRD  PubMed  
    O60674 Signal-transducing adaptor protein-2 STAP2    HPRD  PubMed  
    O60674 P42224 STAT1    HPRD  PubMed  
    O60674 P52630 STAT2    HPRD  PubMed  
    O60674 P40763 STAT3    HPRD  PubMed  
    O60674 P42229 STAT5A    HPRD  PubMed  
    O60674 P51692 STAT5B    HPRD  PubMed  
    O60674 P42680 TEC    HPRD  PubMed  
    O60674 P19438 TNFRSF1A    HPRD  PubMed  
    O60674 P16473 TSHR    HPRD  PubMed  
    O60674 P50607 TUB    HPRD  PubMed  
    O60674 Suppressor of T-cell receptor signaling 1 UBASH3B    HPRD  PubMed  
    O60674 P15498 VAV1    HPRD  PubMed  
    O60674 P55072 VCP    HPRD  PubMed  
    O60674 P07947 YES1    HPRD  PubMed  
    BioGRID:109920 BioGRID:106691 AGTR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:106739 ALK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109920 BioGRID:119674 ASB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:106937 ASS1    BioGRID  PubMed Two-hybrid 
    BioGRID:109920 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:107252 CALM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:107639 CCR5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:107461 CDKN1B    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:107826 CSF2RB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:107875 CTLA4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:113607 CXCR4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:114547 DNAJA3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-Western; Protein-peptide 
    BioGRID:109920 BioGRID:120541 ELP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:108371 EPOR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:108376 ERBB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:108377 ERBB3    BioGRID  PubMed Protein-peptide 
    BioGRID:109920 BioGRID:108551 FGFR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:108810 FYN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:108957 GHR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109144 GRB10    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:109224 GTF2I    BioGRID  PubMed Biochemical Activity 
    BioGRID:109920 BioGRID:109514 HES1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:132759 HES5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:126025 HIST2H3C    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:113895 HIST3H3    BioGRID  PubMed Biochemical Activity 
    BioGRID:109920 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109558 HSP90AB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109588 HTR2A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109681 IFNGR1    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:109920 BioGRID:109682 IFNGR2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109920 BioGRID:114089 IKBKG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109920 BioGRID:109809 IL12RB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:109775 IL2RB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109776 IL2RG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109780 IL4R    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109782 IL5RA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:109786 IL6ST    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109854 INSR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:109874 IRS1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:109920 JAK2    BioGRID  PubMed Biochemical Activity 
    BioGRID:109920 BioGRID:109921 JAK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:110015 KIT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:110245 LYN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109920 BioGRID:110381 MAP3K5    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:111351 PLCG1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111474 PPIA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111495 PPP1CC    BioGRID  PubMed Two-hybrid 
    BioGRID:109920 BioGRID:111511 PPP2R1B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111516 PPP2R4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111603 PRLR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:115688 PRMT5    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:109920 BioGRID:111696 PTAFR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111719 PTK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:108480 PTK2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111736 PTPN1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:111745 PTPN11    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:109920 BioGRID:111746 PTPN12    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111742 PTPN6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:111831 RAF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109920 BioGRID:118134 RBMX    BioGRID  PubMed Two-hybrid 
    BioGRID:109920 BioGRID:117455 SH2B1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109920 BioGRID:115850 SH2B2    BioGRID  PubMed Biochemical Activity 
    BioGRID:109920 BioGRID:112361 SHC1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109920 BioGRID:126752 SIRPA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:112393 SKP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:114203 SOCS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109920 BioGRID:114488 SOCS3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109920 BioGRID:112592 SRC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:113722 STAM    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:115548 STAM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:112649 STAT1    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:109920 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:109920 BioGRID:112653 STAT5A    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:109920 BioGRID:112654 STAT5B    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109920 BioGRID:112865 TEC    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:112986 TNFRSF1A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109920 BioGRID:113041 TRAF6    BioGRID  PubMed Two-hybrid 
    BioGRID:109920 BioGRID:113104 TSHR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:113126 TUB    BioGRID  PubMed Biochemical Activity 
    BioGRID:109920 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109920 BioGRID:113252 VAV1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109920 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109920 BioGRID:113357 YES1    BioGRID  PubMed Affinity Capture-Western 
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      IL6-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-11 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Interleukin-11 Signaling Pathway, organism-specific biosystemIL-11 is a multifunctional cytokine that belongs to the gp130 family. It was first isolated from a primate bone marrow derived cell line, PU-34 for its ability to stimulate the proliferation of a pla...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • Interleukin-6 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-6 signaling, organism-specific biosystemInterleukin-6 (IL-6) is a pleiotropic cytokine with roles in processes including immune regulation, hematopoiesis, inflammation, oncogenesis, metabolic control and sleep. It is the founding member o...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
    • Leishmaniasis, organism-specific biosystem (from KEGG)
      Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leishmaniasis, conserved biosystem (from KEGG)
      Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
      Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
    • Measles, organism-specific biosystem (from KEGG)
      Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Measles, conserved biosystem (from KEGG)
      Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
    • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem (from Pathway Interaction Database)
      Paxillin-independent events mediated by a4b1 and a4b7, organism-specific biosystem
      Paxillin-independent events mediated by a4b1 and a4b7
    • Prolactin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Prolactin Signaling Pathway, organism-specific biosystemProlactin (PRL), a pleiotropic polypeptide hormone, mostly secreted by the lactotrophic cells of anterior pituitary gland and to a lesser extent expressed in numerous extra pituitary tissues such as ...
    • Prolactin receptor signaling, organism-specific biosystem (from REACTOME)
      Prolactin receptor signaling, organism-specific biosystemProlactin (PRL) is a hormone secreted mainly by the anterior pituitary gland. It was originally identified by its ability to stimulate the development of the mammary gland and lactation, but is now k...
    • Regulation of IFNG signaling, organism-specific biosystem (from REACTOME)
      Regulation of IFNG signaling, organism-specific biosystemAt least three different classes of negative regulators exist to control the extent of INFG stimulation and signaling. These include the feedback inhibitors belonging to protein family suppressors of...
    • S1P3 pathway, organism-specific biosystem (from Pathway Interaction Database)
      S1P3 pathway, organism-specific biosystem
      S1P3 pathway
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B
    • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
      Signaling events mediated by Stem cell factor receptor (c-Kit)
    • TSH signaling pathway, organism-specific biosystem (from WikiPathways)
      TSH signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein secreted by the anterior part of the pituitary gland (1). TSH plays an important physiological role in the regulation of the hypothalamic-pit...
    • TSLP Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TSLP Signaling Pathway, organism-specific biosystemThymic stromal lymphopoietin (TSLP) is a type I cytokine member of interleukin-2 cytokine family. TSLP signals through interleukin-7 receptor a chain (IL-7Ra) and the TSLP receptor subunit (TSLPR), h...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
      Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    SH2 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    acetylcholine receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    growth hormone receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heme binding IDA
    Inferred from Direct Assay
    more info
     
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone kinase activity (H3-Y41 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    insulin receptor substrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-12 receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    non-membrane spanning protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptide hormone receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity EXP
    Inferred from Experiment
    more info
     
    protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    type 1 angiotensin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    JAK-STAT cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    JAK-STAT cascade involved in growth hormone signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    JAK-STAT cascade involved in growth hormone signaling pathway TAS
    Traceable Author Statement
    more info
     
    STAT protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament polymerization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    activation of JAK2 kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    activation of MAPKK activity IEA
    Inferred from Electronic Annotation
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular component movement TAS
    Traceable Author Statement
    more info
    PubMed 
    cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    elevation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme linked receptor protein signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    growth hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H3-Y41 phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hormone-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    interleukin-12-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular protein kinase cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    mineralocorticoid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of growth hormone receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-1 beta production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of nitric oxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of nitric-oxide synthase biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phosphatidylinositol 3-kinase cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phosphoprotein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein import into nucleus, translocation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tyrosine phosphorylation of Stat3 protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tyrosine phosphorylation of Stat5 protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    response to antibiotic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to interleukin-12 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tumor necrosis factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tyrosine phosphorylation of STAT protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tyrosine phosphorylation of Stat1 protein IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine phosphorylation of Stat3 protein IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine phosphorylation of Stat5 protein IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    endosome lumen TAS
    Traceable Author Statement
    more info
     
    membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    tyrosine-protein kinase JAK2
    Names
    tyrosine-protein kinase JAK2
    JAK-2
    Janus kinase 2 (a protein tyrosine kinase)
    NP_004963.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009904.1 RefSeqGene

      Range
      5001..147939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004972.3NP_004963.1  tyrosine-protein kinase JAK2

      Status: REVIEWED

      Source sequence(s)
      AF005216, AF058925, AI923337, AL158147
      Consensus CDS
      CCDS6457.1
      UniProtKB/Swiss-Prot
      O60674
      Related
      ENSP00000371067, OTTHUMP00000021024, ENST00000381652, OTTHUMT00000051609
      Conserved Domains (5) summary
      cd05078
      Location:549806
      Blast Score: 1439
      PTK_Jak2_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinases, Janus kinases 2 and 3
      cd05081
      Location:8441127
      Blast Score: 1590
      PTKc_Jak2_Jak3_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinases, Janus kinases 2 and 3
      smart00295
      Location:38270
      Blast Score: 286
      B41; Band 4.1 homologues
      cd10379
      Location:386482
      Blast Score: 513
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      pfam07714
      Location:8491119
      Blast Score: 917
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p10 Primary Assembly

      Range
      4985245..5128183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      4940783..5083727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018920.1 Alternate CHM1_1.0

      Range
      4980834..5123729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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