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Aliases for JAK2 Gene

Aliases for JAK2 Gene

  • Janus Kinase 2 2 3 4
  • EC 2.7.10.2 4 63
  • THCYT3 3 6
  • JAK-2 3 4
  • Janus Kinase 2 (A Protein Tyrosine Kinase) 3
  • Tyrosine-Protein Kinase JAK2 3
  • EC 2.7.10 63
  • JTK10 3

External Ids for JAK2 Gene

Previous GeneCards Identifiers for JAK2 Gene

  • GC09P005139
  • GC09P004966
  • GC09P004975
  • GC09P004940

Summaries for JAK2 Gene

Entrez Gene Summary for JAK2 Gene

  • This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for JAK2 Gene

JAK2 (Janus Kinase 2) is a Protein Coding gene. Diseases associated with JAK2 include polycythemia vera and thrombocythemia 3. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein kinase binding and protein kinase activity. An important paralog of this gene is TNK1.

UniProtKB/Swiss-Prot for JAK2 Gene

  • Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins. Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation. Plays a role in cell cycle by phosphorylating CDKN1B. Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of Tyr-41 of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin.

Tocris Summary for JAK2 Gene

  • JAKs (or Janus kinases) are a family of tyrosine kinases that associated with cytokine receptors. Upon receptor activation JAKs phosphorylate the transcription factors known as STATs and initiate the JAK-STAT signaling pathway. Four JAK family members have been identified (JAK1, JAK2, JAK3 and Tyk2), which share a similar protein domain structure: a kinase domain, a regulatory pseudo -kinase domain, a SH2 domain and a FERM domain. The FERM domain of JAK family members mediates the association of JAK with other enzymes and cytokine receptors. The JAK Tyk2 associates with the IFN-1, IL-6, 10, 12, and 23 cytokine receptor families. JAK1 mediates signals from IFN-alpha, beta, gamma and IL-2, 6 receptors. JAK2 transduces signals from the single chain and IL-3 cytokine receptor families, and from the IFN-gamma receptors. JAK3 associates with the IL-2 receptor gamma-chain.

Gene Wiki entry for JAK2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAK2 Gene

Genomics for JAK2 Gene

Regulatory Elements for JAK2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for JAK2 Gene

Start:
4,985,033 bp from pter
End:
5,129,948 bp from pter
Size:
144,916 bases
Orientation:
Plus strand

Genomic View for JAK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for JAK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAK2 Gene

Proteins for JAK2 Gene

  • Protein details for JAK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60674-JAK2_HUMAN
    Recommended name:
    Tyrosine-protein kinase JAK2
    Protein Accession:
    O60674
    Secondary Accessions:
    • O14636
    • O75297

    Protein attributes for JAK2 Gene

    Size:
    1132 amino acids
    Molecular mass:
    130674 Da
    Quaternary structure:
    • Interacts with EPOR, LYN, SIRPA, SH2B1 and TEC (By similarity). Interacts with IL23R, SKB1 and STAM2.

    Three dimensional structures from OCA and Proteopedia for JAK2 Gene

neXtProt entry for JAK2 Gene

Proteomics data for JAK2 Gene at MOPED

Post-translational modifications for JAK2 Gene

  • Autophosphorylated, leading to regulate its activity. Leptin promotes phosphorylation on tyrosine residues, including phosphorylation on Tyr-813. Autophosphorylation on Tyr-119 in response to EPO down-regulates its kinase activity. Autophosphorylation on Tyr-868, Tyr-966 and Tyr-972 in response to growth hormone (GH) are required for maximal kinase activity. Also phosphorylated by TEC (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JAK2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for JAK2 (JAK2)

Domains for JAK2 Gene

Gene Families for JAK2 Gene

HGNC:
  • SH2D :SH2 domain containing
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O60674

UniProtKB/Swiss-Prot:

JAK2_HUMAN :
  • O60674
Domain:
  • Possesses 2 protein kinase domains. The second one probably contains the catalytic domain, while the presence of slight differences suggest a different role for protein kinase 1 (By similarity).
  • Contains 1 FERM domain.
  • Contains 2 protein kinase domains.
  • Contains 1 SH2 domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
genes like me logo Genes that share domains with JAK2: view

Function for JAK2 Gene

Molecular function for JAK2 Gene

GENATLAS Biochemistry: Janus tyrosine kinase 2,non receptor type,class III,murine FD-17 homolog,playing pivotal functions for signal transduction fromhematopoietic cytokine receptors,mediating the activation of STAT proteins,required in definitive erythropoiesis,involved in GH induced activation of the GH receptor. Also activated in leukemia or constitutively expressed in acute lymphoblastic leukemia with t(9;12) (p24;p13) and a chimeric fusion protein,5 - ETV6 -JAK2 - 3.
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: Regulated by autophosphorylation, can both activate or decrease activity (By similarity). Heme regulates its activity by enhancing the phosphorylation on Tyr-1007 and Tyr-1008.
UniProtKB/Swiss-Prot Function: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins. Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation. Plays a role in cell cycle by phosphorylating CDKN1B. Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of Tyr-41 of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin.

Enzyme Numbers (IUBMB) for JAK2 Gene

Gene Ontology (GO) - Molecular Function for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity NAS 9670957
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IBA --
GO:0005102 receptor binding IPI 11201744
GO:0005131 growth hormone receptor binding ISS --
genes like me logo Genes that share ontologies with JAK2: view
genes like me logo Genes that share phenotypes with JAK2: view

Animal Models for JAK2 Gene

MGI Knock Outs for JAK2:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targeting and HOMER Transcription for JAK2 Gene

Localization for JAK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAK2 Gene

Endomembrane system; Peripheral membrane protein. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAK2 Gene COMPARTMENTS Subcellular localization image for JAK2 gene
Compartment Confidence
nucleus 5
cytosol 4
endosome 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10502458
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 10502458
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with JAK2: view

Pathways for JAK2 Gene

genes like me logo Genes that share pathways with JAK2: view

PCR Array Products

Gene Ontology (GO) - Biological Process for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IEA --
GO:0006325 chromatin organization TAS --
GO:0006468 protein phosphorylation TAS 9670957
GO:0006915 apoptotic process ISS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process ISS --
genes like me logo Genes that share ontologies with JAK2: view

Compounds for JAK2 Gene

Compound Products

(36) ApexBio Compounds for JAK2 Gene

Compound Action Cas Number
1,2,3,4,5,6-Hexabromocyclohexane Potently and directly inhibits JAK2. [1837-91-8]
AZ 960 novel inhibitor of JAKs [905586-69-8]
AZD1480 novel small-molecule JAK inhibitor [935666-88-9]
Baricitinib (LY3009104, INCB028050) new selective orally bioavailable inhibitor of JAK1 or JAK2. [1187594-09-7]
Baricitinib phosphate selective orally bioavailable JAK1/JAK2 inhibitor [1187595-84-1]
BMS-911543 potent and selective inhibitor of JAK2. [1271022-90-2]
CEP-33779 highly selective, orally active inhibitor of JAK2 [1257704-57-6]
Cercosporamide Potent inhibitor of Mnk2 and JAK3. [131436-22-1]
Cucurbitacin I Selective inhibitor of STAT3/JAK2. [2222-7-3]
CYT387 potent and selective inhibitor of JAK1, JAK2,TYK2 [1056634-68-4]
CYT387 sulfate salt ATP-competitive small molecule JAK1/JAK2 inhibitor. [1056636-06-6]
JAK2 Inhibitor V, Z3 novel specific inhibitor of Jak2 tyrosine kinase. [195371-52-9]
JANEX-1 rationally designed novel JAK3 inhibitor. [202475-60-3]
Lestaurtinib Potent JAK2, FLT3 and TrkA inhibitor. [111358-88-4]
LY2784544 potent JAK2 inhibitor [1229236-86-5]
NSC 33994 Selective inhibitor of JAK2. [82058-16-0]
NVP-BSK805 potent inhibitior of JAK2(V617F) and JAK2 wild-type enzymes. [1092499-93-8]
NVP-BSK805 2HCl potent and selective ATP-competitive JAK2 inhibitor [1092499-93-8]
Pyridone 6 pan-JAK inhibitor [457081-03-7]
Ruxolitinib (INCB018424) specific inhibitor of JAK1 and JAK2 [941678-49-5]
Ruxolitinib phosphate orally bioavailable JAK inhibitor [1092939-17-7]
Ruxolitinib sulfate orally bioavailable JAK inhibitor [1092939-16-6]
SB1317 novel pyrimidine-based multi-kinase inhibitor that inhibits CDKs 1, 2, 7 and 9 together with JAK2 and FLT3 [937270-47-8]
SD 1008 JAK2/STAT3 signaling pathway inhibitor. [960201-81-4]
S-Ruxolitinib (INCB018424) potent and selective small-molecule JAK1 and JAK2 inhibitor. [941685-37-6]
TCS 21311 Potent JAK3 inhibitor. [1260181-14-3]
TG101209 JAK2 and 3 inhibitor, also inhibits Flt3 and RET [936091-14-4]
TG101348 (SAR302503) potent and selective inhibitor of JAK2. [936091-26-8]
Tofacitinib (CP-690550) Citrate potent inhibitor of JAK3 [540737-29-9]
Tofacitinib (CP-690550,Tasocitinib) novel oral JAK inhibitor. [477600-75-2]
WHI-P154 potent JAK3 inhibitor [211555-04-3]
WHI-P97 rationally designed potent inhibitor of JAK3. [211555-05-4]
WP1066 Cell permeable STAT3 inhibitor [857064-38-1]
XL019 potent and selective JAK2 inhibitor [945755-56-6]
ZM 39923 HCl JAK1/3 inhibitor [1021868-92-7]
ZM 449829 Potent, selective inhibitor of JAK3 [4452-6-6]

(5) Tocris Compounds for JAK2 Gene

Compound Action Cas Number
Atiprimod dihydrochloride JAK2 inhibitor [130065-61-1]
CP 690550 citrate Potent JAK inhibitor [540737-29-9]
Cucurbitacin I Selective inhibitor of STAT3/JAK2 signaling [2222-07-3]
Lestaurtinib JAK2, FLT3 and TrkA inhibitor [111358-88-4]
ZM 449829 Potent, selective JAK3 inhibitor [4452-06-6]

(2) HMDB Compounds for JAK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(103) Novoseek inferred chemical compound relationships for JAK2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 88.7 251
gp 130 70.4 24
anagrelide 66.4 2
ly294002 64.4 13
beta-tyrosine 61.7 5
genes like me logo Genes that share compounds with JAK2: view

Transcripts for JAK2 Gene

mRNA/cDNA for JAK2 Gene

Unigene Clusters for JAK2 Gene

Janus kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for JAK2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for JAK2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAK2 Gene

No ASD Table

Relevant External Links for JAK2 Gene

GeneLoc Exon Structure for
JAK2
ECgene alternative splicing isoforms for
JAK2

Expression for JAK2 Gene

mRNA expression in normal human tissues for JAK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JAK2 Gene

This gene is overexpressed in Artery - Tibial (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAK2 Gene

SOURCE GeneReport for Unigene cluster for JAK2 Gene Hs.656213

mRNA Expression by UniProt/SwissProt for JAK2 Gene

O60674-JAK2_HUMAN
Tissue specificity: Ubiquitously expressed throughout most tissues.
genes like me logo Genes that share expressions with JAK2: view

In Situ Assay Products

Orthologs for JAK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAK2 35
  • 99.53 (n)
  • 99.65 (a)
JAK2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAK2 35
  • 93.23 (n)
  • 94.79 (a)
JAK2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAK2 35
  • 92.96 (n)
  • 94.52 (a)
JAK2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jak2 35
  • 88.6 (n)
  • 93.73 (a)
Jak2 16
Jak2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAK2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Jak2 35
  • 88.81 (n)
  • 94.61 (a)
chicken
(Gallus gallus)
Aves JAK2 35
  • 81.25 (n)
  • 87.23 (a)
JAK2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAK2 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3112 35
tropical clawed frog
(Silurana tropicalis)
Amphibia jak2 35
  • 75.14 (n)
  • 78.12 (a)
Str.1955 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4126 35
zebrafish
(Danio rerio)
Actinopterygii jak2a 35
jak2a 36
  • 66 (a)
OneToMany
jak2b 35
  • 66.67 (n)
  • 69.79 (a)
jak2b 36
  • 69 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for JAK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JAK2 Gene

ENSEMBL:
Gene Tree for JAK2 (if available)
TreeFam:
Gene Tree for JAK2 (if available)

Paralogs for JAK2 Gene

Paralogs for JAK2 Gene

genes like me logo Genes that share paralogs with JAK2: view

Variants for JAK2 Gene

Sequence variations from dbSNP and Humsavar for JAK2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs884132 -- 5,114,522(-) CGGCT(C/T)TTCTA intron-variant
rs913594 -- 5,063,199(-) AAGAA(C/T)GAAAA intron-variant
rs966871 -- 5,121,070(-) GTCTC(A/T)TCATC intron-variant
rs1028912 -- 5,050,369(+) tagct(C/G)aagag intron-variant
rs1034072 -- 5,088,903(-) CCCCA(A/T)TATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JAK2 Gene

Variant ID Type Subtype PubMed ID
nsv892132 CNV Gain 21882294
nsv892136 CNV Gain 21882294
nsv527495 CNV Gain 19592680
esv2517112 CNV Deletion 19546169
nsv824825 CNV Loss 20364138
dgv1208n67 CNV Loss 20364138
nsv466100 CNV Gain 19166990
nsv512086 CNV Loss 21212237
esv267944 CNV Insertion 20981092
nsv436602 CNV Deletion 17901297
esv2670206 CNV Deletion 23128226
esv25766 CNV Loss 19812545
nsv438090 CNV Loss 16468122
dgv8017n71 CNV Loss 21882294
dgv8018n71 CNV Loss 21882294
nsv892141 CNV Gain 21882294

Relevant External Links for JAK2 Gene

HapMap Linkage Disequilibrium report
JAK2
Human Gene Mutation Database (HGMD)
JAK2
Locus Specific Mutation Databases (LSDB)
JAK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAK2 Gene

Disorders for JAK2 Gene

(6) OMIM Diseases for JAK2 Gene (147796)

UniProtKB/Swiss-Prot

JAK2_HUMAN
  • Note=Chromosomal aberrations involving JAK2 are found in both chronic and acute forms of eosinophilic, lymphoblastic and myeloid leukemia. Translocation t(8;9)(p22;p24) with PCM1 links the protein kinase domain of JAK2 to the major portion of PCM1. Translocation t(9;12)(p24;p13) with ETV6.
  • Budd-Chiari syndrome (BDCHS) [MIM:600880]: A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera. {ECO:0000269 PubMed:16707754}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Polycythemia vera (PV) [MIM:263300]: A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. {ECO:0000269 PubMed:15781101, ECO:0000269 PubMed:15793561, ECO:0000269 PubMed:15858187, ECO:0000269 PubMed:16603627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombocythemia 3 (THCYT3) [MIM:614521]: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. {ECO:0000269 PubMed:16325696, ECO:0000269 PubMed:22397670}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Myelofibrosis (MYELOF) [MIM:254450]: A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:16247455}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) University of Copenhagen DISEASES for JAK2 Gene

(88) Novoseek inferred disease relationships for JAK2 Gene

Disease -log(P) Hits PubMed IDs
polycythemia vera 95.5 115
myeloproliferative neoplasm 95 67
thrombocythemia essential 94.8 64
primary myelofibrosis 94.4 22
myeloproliferative disorders 94.3 118

Relevant External Links for JAK2

Genetic Association Database (GAD)
JAK2
Human Genome Epidemiology (HuGE) Navigator
JAK2
Tumor Gene Database (TGDB):
JAK2
genes like me logo Genes that share disorders with JAK2: view

Publications for JAK2 Gene

  1. The JAK2 V617F mutation in de novo acute myelogenous leukemias. (PMID: 16247455) Lee J.W. … Lee S.H. (Oncogene 2006) 3 4 23 48
  2. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. (PMID: 16197451) Wolanskyj A.P. … Tefferi A. (Br. J. Haematol. 2005) 3 23 48
  3. The structural basis of Janus kinase 2 inhibition by a potent and specific pan-Janus kinase inhibitor. (PMID: 16174768) Lucet I.S. … Rossjohn J. (Blood 2006) 3 4 23
  4. A gain-of-function mutation of JAK2 in myeloproliferative disorders. (PMID: 15858187) Kralovics R. … Skoda R.C. (N. Engl. J. Med. 2005) 3 4 23
  5. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. (PMID: 15781101) Baxter E.J. … Green A.R. (Lancet 2005) 3 4 23

Products for JAK2 Gene

  • Addgene plasmids for JAK2

Sources for JAK2 Gene

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