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Aliases for JAK2 Gene

Aliases for JAK2 Gene

  • Janus Kinase 2 2 3 4 5
  • EC 2.7.10.2 4 61
  • JAK-2 3 4
  • Janus Kinase 2 (A Protein Tyrosine Kinase) 3
  • Tyrosine-Protein Kinase JAK2 3
  • EC 2.7.10 61
  • THCYT3 3
  • 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]

CIViC summary for JAK2 Gene

  • JAK2 is a kinase that is misregulated or mutated in a number of myeloproliferative diseases and cancers. The mutation V617F is the most clinically relevant variant, and is seen in around half of myeloproliferative disorders. The variant is a known activating mutation, and activated JAK2 is sufficient to drive myeloproliferative disorders in mouse models. V617F, while most recurrent, is not the only mechanism by which JAK2 can be activated in patients. JAK2 is now one of the first diagnostic markers tested upon diagnosis with a myeloproliferative disorder.

GeneCards Summary for JAK2 Gene

JAK2 (Janus Kinase 2) is a Protein Coding gene. Diseases associated with JAK2 include Thrombocythemia 3 and Leukemia, Acute Myeloid. Among its related pathways are Development EPO-induced Jak-STAT pathway and RET signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is JAK3.

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 (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). 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 (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). 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 (PubMed:19783980).

Tocris Summary for JAK2 Gene

  • JAKs (or Janus kinases) are a family of tyrosine kinases that are 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.

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

Enhancers for JAK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G004935 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.2 -46.9 -46889 5.0 HDAC1 TBP FOXA2 PKNOX1 TBL1XR1 WRNIP1 ZNF133 BMI1 FEZF1 GATA2 JAK2 RCL1 HNRNPA1P41 PIR61723
GH09G004854 1.4 Ensembl ENCODE dbSUPER 22.4 -128.7 -128678 2.6 HDGF HDAC1 CBX3 TBL1XR1 NFRKB ZBTB40 TCF12 GATA2 EGR1 SMARCA5 JAK2 RCL1 ENSG00000228165 PIR61723
GH09G004861 1.3 ENCODE dbSUPER 15.2 -121.1 -121118 4.0 FOXA2 PKNOX1 ATF1 CREB3L1 ARNT E2F7 YY1 TCF12 ZNF766 ELK1 JAK2 ENSG00000228165 PIR61723
GH09G005492 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +509.5 509547 1.9 HDGF PKNOX1 ATF1 YBX1 YY1 ZNF766 ZNF207 FOS CAVIN1 JUNB CD274 PDCD1LG2 JAK2 RIC1 PLGRKT
GH09G005448 2 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +467.7 467735 8.0 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 CD274 PDCD1LG2 JAK2 RIC1 PLGRKT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JAK2 on UCSC Golden Path with GeneCards custom track

Promoters for JAK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232807 1110 2601 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for JAK2 Gene

Chromosome:
9
Start:
4,984,390 bp from pter
End:
5,128,183 bp from pter
Size:
143,794 bases
Orientation:
Plus strand

Genomic View for JAK2 Gene

Genes around JAK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with EPOR, LYN, SIRPA, SH2B1 and TEC (By similarity). Interacts with IL23R (PubMed:12023369). Interacts with SKB1 (PubMed:10531356). Interacts with STAM2 (PubMed:10899310). Interacts with IFNGR2 (via intracellular domain) (PubMed:7673114, PubMed:7615558). Interacts with LEPR (Isoform B) (By similarity). Interacts with HSP90AB1; promotes functional activation in a heat shock-dependent manner (PubMed:20353823).

    Three dimensional structures from OCA and Proteopedia for JAK2 Gene

neXtProt entry for JAK2 Gene

Selected DME Specific Peptides for JAK2 Gene

O60674:
  • CMDYEPDFRP
  • VKFGSLDTYLKKNKN
  • DVSIKQA
  • DAHHYLC
  • SDVWSFGVVLYELFTY
  • PFIKLSDPG
  • FFEAASMM
  • ERIPWVPPECIENP
  • HRDLATRN
  • ECWNNNV
  • QICKGMEYLG
  • EFMRMIGNDKQGQMIVFHLIELLK
  • VLENIQSNCHGPI
  • TEVLLKV
  • ITGNGGIQ
  • YHILTRKRIRYRFR
  • QRPSFRDL
  • FGTTLWEIC
  • EVGDYGQLH
  • VMSYLFAQWR
  • KLKKAGNQTG
  • LYRIRFYFP
  • VLRCSPKDFNKYFLTFAVERENV
  • KCCPPKPKDKSNLLVFR
  • PVYHNMFALMSETER
  • FEERHLK
  • SPIFWYAPESL
  • ECLGMAVL
  • NGRLPRP
  • ETERIWYPPNHVFH
  • QMVFHKIRNEDLIF
  • ESLGQGTFTKIFKG
  • FEVKEPG

Post-translational modifications for JAK2 Gene

  • Autophosphorylated, leading to regulate its activity. Leptin promotes phosphorylation on tyrosine residues, including phosphorylation on Tyr-813 (By similarity). Autophosphorylation on Tyr-119 in response to EPO down-regulates its kinase activity (By similarity). Autophosphorylation on Tyr-868, Tyr-966 and Tyr-972 in response to growth hormone (GH) are required for maximal kinase activity (By similarity). Also phosphorylated by TEC (By similarity). Phosphorylated on tyrosine residues in response to interferon gamma signaling (PubMed:7615558, PubMed:7673114).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for JAK2 Gene

Graphical View of Domain Structure for InterPro Entry

O60674

UniProtKB/Swiss-Prot:

JAK2_HUMAN :
  • 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).
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
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).
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 (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). 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 (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). 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 (PubMed:19783980).

Enzyme Numbers (IUBMB) for JAK2 Gene

Gene Ontology (GO) - Molecular Function for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity NAS 9670957
GO:0004713 protein tyrosine kinase activity IDA,TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with JAK2: view
genes like me logo Genes that share phenotypes with JAK2: view

Human Phenotype Ontology for JAK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAK2 Gene

MGI Knock Outs for JAK2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAK2

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAK2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endosome 4
cytoskeleton 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 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 & Interactions for JAK2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Prolactin Signaling Pathway
3 IL-2 Pathway
4 Influenza A
.34
5 Th17 cell differentiation
genes like me logo Genes that share pathways with JAK2: view

SIGNOR curated interactions for JAK2 Gene

Gene Ontology (GO) - Biological Process for JAK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity IEA --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation TAS 9670957
genes like me logo Genes that share ontologies with JAK2: view

Drugs & Compounds for JAK2 Gene

(150) Drugs for JAK2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ruxolitinib Approved Pharma inhibitor, Target Kinase Inhibitors 0
Tofacitinib Approved, Investigational Pharma Target, antagonist, inhibitor 108
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2020
Mirabegron Approved Pharma 95
Panobinostat Approved, Investigational Pharma Histone deacetylase (HDAC)inhibitors 135

(47) Additional Compounds for JAK2 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
CP 690550 citrate
540737-29-9

(5) Tocris Compounds for JAK2 Gene

Compound Action Cas Number
AZD 1480 Potent and selective JAK2 inhibitor; antiangiogenic 935666-88-9
Cercosporamide Potent Mnk2 inhibitor 131436-22-1
CP 690550 citrate Potent JAK inhibitor 540737-29-9
Lestaurtinib JAK2, FLT3 and TrkA inhibitor 111358-88-4
TCS 21311 Potent JAK3 inhibitor. Also inhibits GSK-3beta and PKC 1260181-14-3

(45) ApexBio Compounds for JAK2 Gene

Compound Action Cas Number
(3R,4S)-Tofacitinib 1092578-46-5
(3S,4R)-Tofacitinib 1092578-48-7
(3S,4S)-Tofacitinib 1092578-47-6
1,2,3,4,5,6-Hexabromocyclohexane JAK2 tyrosine kinase inhibitor 1837-91-8
AG-490 JAK2/EGFR inhibitor 133550-30-8
AG-490 (Tyrphostin B42) EGFR/JAK2/JAK3 inhibitor 133550-30-8
AT9283 Aurora kinase/JAK inhibitor 896466-04-9
AZ 960 JAKs inhibitor 905586-69-8
AZD1480 JAK2 inhibitor,ATP-competitive and novel 935666-88-9
Bardoxolone methyl IKK inhibitor, potent antioxidant inflammation modulator 218600-53-4
Baricitinib (LY3009104, INCB028050) JAK1/JAK2 inhibitor,selective orally bioavailable 1187594-09-7
Baricitinib phosphate JAK1/JAK2 inhibitor 1187595-84-1
BMS-911543 JAK2 inhibitor,selective small molecule 1271022-90-2
CEP-33779 JAK2 inhibitor,highly selective 1257704-57-6
Cerdulatinib Syk/JAK inhibitor 1198300-79-6
CHZ868 Type II JAK2 inhibitor
Cucurbitacin I STAT3/JAK2 signaling inhibitor 2222-07-3
CYT387 JAK-1/-2 inhibitor,ATP competitive 1056634-68-4
CYT387 sulfate salt JAK1/JAK2 inhibitor 1056636-06-6
GLPG0634 JAK1 inhibitor 1206161-97-8
JAK2 Inhibitor V, Z3 Jak2 tyrosine kinase inhibitor 195371-52-9
Lestaurtinib JAK2/FLT3/TrkA inhibitor 111358-88-4
LY2784544 JAK2 inhibitor,highly potent and selective 1229236-86-5
NSC 33994 Selective JAK2 inhibitor 82058-16-0
NVP-BSK805 ATP-competitive JAK2 inhibitor 1092499-93-8
NVP-BSK805 2HCl JAK2 inhibitor 1092499-93-8
Pacritinib Selective JAK2/FLT3 inhibitor 937272-79-2
Pacritinib (SB1518) JAK2/FLT3 inhibitor 937272-79-2
Peficitinb (ASP015K, JNJ-54781532) JAK inhibitor 944118-01-8
Pyridone 6 Pan-JAK inhibitor 457081-03-7
Ruxolitinib (INCB018424) JAK inhibitor 941678-49-5
Ruxolitinib phosphate JAK1/JAK2 inhibitor 1092939-17-7
Ruxolitinib sulfate JAK inhibitor 1092939-16-6
SB1317 CDK,JAK and FLT inhibitor 937270-47-8
SD 1008 Inhibitor of JAK2/STAT3 signaling pathway,apoptosis inducer 960201-81-4
S-Ruxolitinib (INCB018424) JAK1/2 inhibitor,potent and selective 941685-37-6
TCS JNK 5a JNK2 and JNK3 inhibitor 312917-14-9
TG101209 JAK2/3 inhibitor 936091-14-4
TG101348 (SAR302503) JAK-2 inhibitor,potent and selective 936091-26-8
Tofacitinib (CP-690550) Citrate Potent JAK inhibitor 540737-29-9
Tofacitinib (CP-690550,Tasocitinib) Janus kinase inhibitor 477600-75-2
WHI-P154 JAK3 inhibitor 211555-04-3
WP1066 JAK2/STAT3 inhibitor,cell-permeable 857064-38-1
XL019 JAK2 inhibitor,potent and selective 945755-56-6
ZM 39923 HCl JAK3 inhibitor,potent and selective 1021868-92-7
genes like me logo Genes that share compounds with JAK2: view

Drug Products

Transcripts for JAK2 Gene

Unigene Clusters for JAK2 Gene

Janus kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.3).

Protein differential expression in normal tissues from HIPED for JAK2 Gene

This gene is overexpressed in Ovary (46.4) and Peripheral blood mononuclear cells (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JAK2 Gene



Protein tissue co-expression partners for JAK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of JAK2 Gene:

JAK2

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.

Evidence on tissue expression from TISSUES for JAK2 Gene

  • Nervous system(4.6)
  • Blood(3.3)
  • Bone marrow(3.2)
  • Spleen(3.2)
  • Heart(3.1)
  • Muscle(3.1)
  • Kidney(2.8)
  • Lung(2.8)
  • Liver(2.6)
  • Intestine(2.3)
  • Lymph node(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • salivary gland
  • skull
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with JAK2: view

Primer 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 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia JAK2 34 35
  • 93.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia JAK2 34 35
  • 92.96 (n)
oppossum
(Monodelphis domestica)
Mammalia JAK2 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jak2 34
  • 88.81 (n)
mouse
(Mus musculus)
Mammalia Jak2 34 16 35
  • 88.6 (n)
chicken
(Gallus gallus)
Aves JAK2 34 35
  • 81.25 (n)
lizard
(Anolis carolinensis)
Reptilia JAK2 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jak2 34
  • 75.14 (n)
Str.1955 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3112 34
zebrafish
(Danio rerio)
Actinopterygii jak2b 34 35
  • 66.67 (n)
jak2a 34 35
  • 66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4126 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for JAK2 was found in the sources mined by GeneCards:
  • 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

Variants for JAK2 Gene

Sequence variations from dbSNP and Humsavar for JAK2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121912472 Pathogenic, Leukemia, acute myelogenous (AML) [MIM:601626] 5,073,742(+) CACAA(C/G)CATTT intron-variant, reference, missense
rs77375493 Pathogenic, Leukemia, acute myelogenous (AML) [MIM:601626], Polycythemia vera (PV) [MIM:263300], Thrombocythemia 3 (THCYT3) [MIM:614521], Thrombocythemia 3 (THCYT3) [MIM:614521] 5,073,770(+) TATGT(A/G/T)TCTGT intron-variant, reference, missense
VAR_041717 An ovarian serous carcinoma sample
rs1057515596 Likely benign 5,127,978(+) ACATC(-/ATC)TTAAA intron-variant, utr-variant-3-prime
rs2230726 Likely benign 5,089,688(+) GGGAG(C/T)GTGGA intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv1208n67 CNV loss 20364138
dgv2127e212 CNV gain 25503493
dgv7382n100 CNV gain 25217958
dgv7383n100 CNV loss 25217958
dgv7384n100 CNV gain 25217958
esv2517112 CNV deletion 19546169
esv25766 CNV loss 19812545
esv2670206 CNV deletion 23128226
esv2761267 CNV loss 21179565
esv2761481 CNV loss 21179565
esv2764165 CNV gain+loss 21179565
esv3303665 CNV mobile element insertion 20981092
esv3359627 CNV insertion 20981092
esv3573091 CNV loss 25503493
esv3573092 CNV loss 25503493
esv3619364 CNV loss 21293372
esv3619366 CNV loss 21293372
nsv1019034 CNV gain 25217958
nsv1031675 CNV loss 25217958
nsv1031690 CNV gain 25217958
nsv436602 CNV deletion 17901297
nsv438090 CNV loss 16468122
nsv466100 CNV gain 19166990
nsv512086 CNV loss 21212237
nsv527495 CNV gain 19592680
nsv613176 CNV loss 21841781
nsv613178 CNV gain 21841781
nsv613179 CNV gain 21841781
nsv824825 CNV loss 20364138
nsv968762 CNV duplication 23825009
nsv972643 CNV duplication 23825009
nsv982362 CNV duplication 23825009

Variation tolerance for JAK2 Gene

Residual Variation Intolerance Score: 5.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JAK2 Gene

Human Gene Mutation Database (HGMD)
JAK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAK2

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

Disorders for JAK2 Gene

MalaCards: The human disease database

(57) MalaCards diseases for JAK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocythemia 3
  • thrombocytosis 3
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
polycythemia vera, somatic
  • polycythemia vera
budd-chiari syndrome, somatic
myelofibrosis with myeloid metaplasia, somatic
  • myelofibrosis, somatic
- elite association - COSMIC cancer census association via MalaCards
Search JAK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAK2_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

Relevant External Links for JAK2

Genetic Association Database (GAD)
JAK2
Human Genome Epidemiology (HuGE) Navigator
JAK2
Tumor Gene Database (TGDB):
JAK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAK2
genes like me logo Genes that share disorders with JAK2: view

No data available for Genatlas for JAK2 Gene

Publications for JAK2 Gene

  1. A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients. (PMID: 19430293) Burjanivova T. … Plank L. (Diagn. Mol. Pathol. 2009) 3 22 46 64
  2. Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation. (PMID: 19595684) Er T.K. … Liu T.C. (Clin. Chim. Acta 2009) 3 22 46 64
  3. No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma. (PMID: 19704259) Wu D. … Kutok J.L. (Diagn. Mol. Pathol. 2009) 3 22 46 64
  4. JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin. (PMID: 19783980) Dawson M.A. … Kouzarides T. (Nature 2009) 3 4 22 64
  5. Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile. (PMID: 18239666) Ge D. … O'Dell S.D. (Obesity (Silver Spring) 2008) 3 22 46 64

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