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    JAK2 Janus kinase 2 [ Homo sapiens (human) ]

    Gene ID: 3717, updated on 26-Feb-2024

    Summary

    Official Symbol
    JAK2provided by HGNC
    Official Full Name
    Janus kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:6192
    See related
    Ensembl:ENSG00000096968 MIM:147796; AllianceGenome:HGNC:6192
    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
    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 that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
    Expression
    Ubiquitous expression in appendix (RPKM 11.3), heart (RPKM 11.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See JAK2 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4984390..5129948)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4989498..5135022)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4984390..5129948)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902113 Neighboring gene RNA terminal phosphate cyclase like 1 Neighboring gene microRNA 101-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28154 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:4984323-4985156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28156 Neighboring gene Sharpr-MPRA regulatory region 14989 Neighboring gene insulin like 6 Neighboring gene casein kinase 1 gamma 2 pseudogene 1 Neighboring gene MT-ATP6 pseudogene 11 Neighboring gene MT-ND5 pseudogene 36 Neighboring gene decaprenyl diphosphate synthase subunit 1 pseudogene 1 Neighboring gene MT-ND1 pseudogene 11 Neighboring gene MT-ND2 pseudogene 36 Neighboring gene MT-CO1 pseudogene 11 Neighboring gene MT-CO2 pseudogene 11 Neighboring gene MT-ND6 pseudogene 5 Neighboring gene MT-CO3 pseudogene 11 Neighboring gene MT-ND3 pseudogene 14 Neighboring gene MT-ND4L pseudogene 6 Neighboring gene MT-ND4 pseudogene 14 Neighboring gene MT-ND5 pseudogene 14 Neighboring gene transcription factor 3 pseudogene 1 Neighboring gene immunoglobulin heavy constant epsilon P2 (pseudogene) Neighboring gene INSL4 promoter region Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:5269083-5269618 Neighboring gene insulin like 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:5293254-5293796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28157 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 31 Neighboring gene relaxin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acquired polycythemia vera
    MedGen: C0032463 OMIM: 263300 GeneReviews: Not available
    Compare labs
    Acute myeloid leukemia Compare labs
    Budd-Chiari syndrome
    MedGen: C0856761 OMIM: 600880 GeneReviews: Not available
    Compare labs
    Primary familial polycythemia due to EPO receptor mutation Compare labs
    Primary myelofibrosis
    MedGen: C0001815 OMIM: 254450 GeneReviews: Not available
    Compare labs
    Thrombocythemia 3
    MedGen: C3281125 OMIM: 614521 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
    EBI GWAS Catalog
    A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
    EBI GWAS Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    EBI GWAS Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Monocyte derived dendritic cells from HIV-infected clinical samples downregulate JAK2 expression PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH2 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables acetylcholine receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth hormone receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3Y41 kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin receptor substrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables interleukin-12 receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables peptide hormone receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol 3-kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type 1 angiotensin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament polymerization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in activation of Janus kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interleukin-3 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to virus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen-activated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in enzyme-linked receptor protein signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in erythrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in granulocyte-macrophage colony-stimulating factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in growth hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in growth hormone receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth hormone receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-12-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-3-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-35-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interleukin-5-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-6-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mineralocorticoid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MHC class II biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of NK T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NK T cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T-helper 17 type immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of growth factor dependent skeletal muscle satellite cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of growth hormone receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-17 production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of leukocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of natural killer cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of nitric-oxide synthase biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction TAS
    Traceable Author Statement
    more info
     
    acts_upstream_of_or_within positive regulation of platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of platelet aggregation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-translational protein modification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of nitric oxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of postsynapse to nucleus signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within response to antibiotic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to interleukin-12 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in symbiont-induced defense-related programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tumor necrosis factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in type II interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in type II interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in tyrosine phosphorylation of STAT protein IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tyrosine phosphorylation of STAT protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
     
    part_of euchromatin IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of granulocyte macrophage colony-stimulating factor receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of interleukin-12 receptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of interleukin-23 receptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein kinase JAK2
    Names
    JAK-2
    Janus kinase 2 (a protein tyrosine kinase)
    NP_001309123.1
    NP_001309124.1
    NP_001309125.1
    NP_001309127.1
    NP_001309128.1
    NP_001309133.1
    NP_004963.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_612

    mRNA and Protein(s)

    1. NM_001322194.2NP_001309123.1  tyrosine-protein kinase JAK2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), along with variants 1, 3, and 4, encodes isoform a.
      Source sequence(s)
      AL158147, AL161450
      Consensus CDS
      CCDS6457.1
      UniProtKB/Swiss-Prot
      O14636, O60674, O75297
      UniProtKB/TrEMBL
      A8K910, Q506Q0
      Conserved Domains (6) summary
      cd10379
      Location:386482
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      cd13333
      Location:266386
      FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2
      cd05078
      Location:545806
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:8441127
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam18377
      Location:143261
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:39134
      FERM_F1; FERM F1 ubiquitin-like domain
    2. NM_001322195.2NP_001309124.1  tyrosine-protein kinase JAK2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), along with variants 1, 2, and 4, encodes isoform a.
      Source sequence(s)
      AL158147, AL161450
      Consensus CDS
      CCDS6457.1
      UniProtKB/Swiss-Prot
      O14636, O60674, O75297
      UniProtKB/TrEMBL
      A8K910, Q506Q0
      Conserved Domains (6) summary
      cd10379
      Location:386482
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      cd13333
      Location:266386
      FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2
      cd05078
      Location:545806
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:8441127
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam18377
      Location:143261
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:39134
      FERM_F1; FERM F1 ubiquitin-like domain
    3. NM_001322196.2NP_001309125.1  tyrosine-protein kinase JAK2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), along with variants 1, 2, and 3, encodes isoform a.
      Source sequence(s)
      AL158147, AL161450
      Consensus CDS
      CCDS6457.1
      UniProtKB/Swiss-Prot
      O14636, O60674, O75297
      UniProtKB/TrEMBL
      A8K910, Q506Q0
      Conserved Domains (6) summary
      cd10379
      Location:386482
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      cd13333
      Location:266386
      FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2
      cd05078
      Location:545806
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:8441127
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam18377
      Location:143261
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:39134
      FERM_F1; FERM F1 ubiquitin-like domain
    4. NM_001322198.2NP_001309127.1  tyrosine-protein kinase JAK2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), along with variant 7, encodes isoform c.
      Source sequence(s)
      AL158147, AL161450
      Conserved Domains (5) summary
      smart00219
      Location:444714
      TyrKc; Tyrosine kinase, catalytic domain
      cd05078
      Location:140401
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:439722
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam07714
      Location:140400
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:177
      SH2; Src homology 2 (SH2) domain
    5. NM_001322199.2NP_001309128.1  tyrosine-protein kinase JAK2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), along with variant 6, encodes isoform c
      Source sequence(s)
      AL158147, AL161450
      Conserved Domains (5) summary
      smart00219
      Location:444714
      TyrKc; Tyrosine kinase, catalytic domain
      cd05078
      Location:140401
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:439722
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam07714
      Location:140400
      Pkinase_Tyr; Protein tyrosine kinase
      cl15255
      Location:177
      SH2; Src homology 2 (SH2) domain
    6. NM_001322204.2NP_001309133.1  tyrosine-protein kinase JAK2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL161450
      UniProtKB/TrEMBL
      B4DYV1
      Conserved Domains (7) summary
      smart00219
      Location:700970
      TyrKc; Tyrosine kinase, catalytic domain
      cd10379
      Location:237333
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      smart00295
      Location:1121
      B41; Band 4.1 homologues
      cd13333
      Location:117237
      FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2
      cd05078
      Location:396657
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:695978
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam07714
      Location:396656
      Pkinase_Tyr; Protein tyrosine kinase
    7. NM_004972.4NP_004963.1  tyrosine-protein kinase JAK2 isoform a

      See identical proteins and their annotated locations for NP_004963.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), along with variants 2, 3, and 4, all encode the same isoform (a).
      Source sequence(s)
      AF005216, AF058925, AI923337, AL158147, AL161450
      Consensus CDS
      CCDS6457.1
      UniProtKB/Swiss-Prot
      O14636, O60674, O75297
      UniProtKB/TrEMBL
      A8K910, Q506Q0
      Related
      ENSP00000371067.4, ENST00000381652.4
      Conserved Domains (6) summary
      cd10379
      Location:386482
      SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins
      cd13333
      Location:266386
      FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2
      cd05078
      Location:545806
      PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2
      cd14205
      Location:8441127
      PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2
      pfam18377
      Location:143261
      FERM_F2; FERM F2 acyl-CoA binding protein-like domain
      pfam18379
      Location:39134
      FERM_F1; FERM F1 ubiquitin-like domain

    RNA

    1. NR_169763.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL158147, AL161450
    2. NR_169764.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL158147, AL161450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      4984390..5129948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      4989498..5135022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)