JAK2 Janus kinase 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms.
Title: Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms.
[leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
Title: [leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
Sciellin promotes the development and progression of thyroid cancer through the JAK2/STAT3 signaling pathway.
Title: Sciellin promotes the development and progression of thyroid cancer through the JAK2/STAT3 signaling pathway.
JAK2V617F mutation is highly prevalent in patients with ischemic stroke: a case-control study.
Title: JAK2V617F mutation is highly prevalent in patients with ischemic stroke: a case-control study.
Molecular basis of JAK2 activation in erythropoietin receptor and pathogenic JAK2 signaling.
Title: Molecular basis of JAK2 activation in erythropoietin receptor and pathogenic JAK2 signaling.
Epithelial IL5RA promotes epithelial-mesenchymal transition in pulmonary fibrosis via Jak2/STAT3 cascade.
Title: Epithelial IL5RA promotes epithelial-mesenchymal transition in pulmonary fibrosis via Jak2/STAT3 cascade.
Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.
Title: Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.
Knockdown of liver cancer cell-secreted exosomal PSMA5 controls macrophage polarization to restrain cancer progression by blocking JAK2/STAT3 signaling.
Title: Knockdown of liver cancer cell-secreted exosomal PSMA5 controls macrophage polarization to restrain cancer progression by blocking JAK2/STAT3 signaling.
[Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia].
Title: [Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia].
Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche.
Title: Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche.

Submit: New GeneRIF Correction See all GeneRIFs (1427)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acquired polycythemia vera MedGen: C0032463 OMIM: 263300 GeneReviews: Not available	Compare labs
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and 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 MedGen: C4551637 OMIM: 133100 GeneReviews: Primary Familial and Congenital Polycythemia	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 EBI GWAS CatalogPubMed
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65887 (e-PCR)
- UniSTS:82251

JAK2-1 (e-PCR)
- UniSTS:511819

SHGC-106489 (e-PCR)
- UniSTS:169875

JAK2_1315 (e-PCR)
- UniSTS:277397

JAK2_v398 (e-PCR)
- UniSTS:277397

RH92501 (e-PCR)
- UniSTS:91301

WI-11536 (e-PCR)
- UniSTS:42966

STS-U89896 (e-PCR)
- UniSTS:37873

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 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 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 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

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Preferred Names: tyrosine-protein kinase JAK2

Names: JAK-2; Janus kinase 2 (a protein tyrosine kinase)

NP_001309123.1

EC 2.7.10.2

NP_001309124.1

EC 2.7.10.2

NP_001309125.1

EC 2.7.10.2

NP_001309127.1

EC 2.7.10.2

NP_001309128.1

EC 2.7.10.2

NP_001309133.1

EC 2.7.10.2

NP_004963.1

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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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

NG_009904.1 RefSeqGene

Range

5001..147939

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_612

mRNA and Protein(s)

NM_001322194.2 → NP_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:386 → 482

SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins

cd13333
Location:266 → 386

FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2

cd05078
Location:545 → 806

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:844 → 1127

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam18377
Location:143 → 261

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:39 → 134

FERM_F1; FERM F1 ubiquitin-like domain
NM_001322195.2 → NP_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:386 → 482

SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins

cd13333
Location:266 → 386

FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2

cd05078
Location:545 → 806

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:844 → 1127

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam18377
Location:143 → 261

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:39 → 134

FERM_F1; FERM F1 ubiquitin-like domain
NM_001322196.2 → NP_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:386 → 482

SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins

cd13333
Location:266 → 386

FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2

cd05078
Location:545 → 806

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:844 → 1127

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam18377
Location:143 → 261

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:39 → 134

FERM_F1; FERM F1 ubiquitin-like domain
NM_001322198.2 → NP_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:444 → 714

TyrKc; Tyrosine kinase, catalytic domain

cd05078
Location:140 → 401

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:439 → 722

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam07714
Location:140 → 400

Pkinase_Tyr; Protein tyrosine kinase

cl15255
Location:1 → 77

SH2; Src homology 2 (SH2) domain
NM_001322199.2 → NP_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:444 → 714

TyrKc; Tyrosine kinase, catalytic domain

cd05078
Location:140 → 401

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:439 → 722

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam07714
Location:140 → 400

Pkinase_Tyr; Protein tyrosine kinase

cl15255
Location:1 → 77

SH2; Src homology 2 (SH2) domain
NM_001322204.2 → NP_001309133.1 tyrosine-protein kinase JAK2 isoform b

Status: REVIEWED

Source sequence(s)

AL161450

UniProtKB/TrEMBL

B4DYV1

Conserved Domains (7) summary

smart00219
Location:700 → 970

TyrKc; Tyrosine kinase, catalytic domain

cd10379
Location:237 → 333

SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins

smart00295
Location:1 → 121

B41; Band 4.1 homologues

cd13333
Location:117 → 237

FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2

cd05078
Location:396 → 657

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:695 → 978

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam07714
Location:396 → 656

Pkinase_Tyr; Protein tyrosine kinase
NM_004972.4 → NP_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:386 → 482

SH2_Jak2; Src homology 2 (SH2) domain in the Janus kinase 2 (Jak2) proteins

cd13333
Location:266 → 386

FERM_C_JAK2; FERM domain C-lobe of Janus kinase (JAK) 2

cd05078
Location:545 → 806

PTK_Jak2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 2

cd14205
Location:844 → 1127

PTKc_Jak2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 2

pfam18377
Location:143 → 261

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:39 → 134

FERM_F1; FERM F1 ubiquitin-like domain

RNA

NR_169763.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL158147, AL161450
NR_169764.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL158147, AL161450