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JAK2 Janus kinase 2 [ Homo sapiens (human) ]

Gene ID: 3717, updated on 19-Sep-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4984390..5129948)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4989498..5135022)
RS_2024_09 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 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 IDA
Inferred from Direct Assay
more info
PubMed 
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 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 cell surface receptor signaling pathway via JAK-STAT IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell surface receptor signaling pathway via JAK-STAT IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell surface receptor signaling pathway via JAK-STAT 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 erythropoietin-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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-23-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 modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
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 nuclear receptor-mediated mineralocorticoid signaling pathway IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 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
 
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 
is_active_in cytoplasmic side of plasma membrane 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
 
located_in 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_2024_08

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)