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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

JAK2 Gene

protein-coding GIFtS: 76
GCID: GC09P004985

Janus kinase 2

Explore 138 diseases affiliated with
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Janus Kinase 2¹ ² ³		THCYT3²
JTK10¹ ²		Janus Kinase 2 (A Protein Tyrosine Kinase)²
JAK-2² ³		Tyrosine-Protein Kinase JAK2²
EC 2.7.10.2³ ⁸		EC 2.7.10⁸

External Ids:	HGNC: 6192¹	Entrez Gene: 3717²	Ensembl: ENSG00000096968⁷	OMIM: 147796⁵	UniProtKB: O60674³

Export aliases for JAK2 gene to outside databases

Previous GC identifers: GC09P005139 GC09P004966 GC09P004975 GC09P004940

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JAK2:

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)

UniProtKB/Swiss-Prot: JAK2_HUMAN, O60674

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

summary for JAK2:

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 (Janus kinase 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the JAK2 gene promoter:
STAT5B AP-1 ATF-2 Olf-1 STAT3 c-Jun STAT5A RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: JAK2 promoter sequence

Search SABiosciences Chromatin IP Primers for JAK2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAK2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p24 Ensembl cytogenetic band: 9p24.1 HGNC cytogenetic band: 9p24

JAK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAK2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P004985: view genomic region (about GC identifiers)

Start:	4,985,033 bp from pter	End:	5,128,183 bp from pter
Size:	143,151 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JAK2_HUMAN, O60674 (See protein sequence)

Recommended Name: Tyrosine-protein kinase JAK2

Size: 1132 amino acids; 130674 Da

Subunit: Interacts with EPOR, LYN, SIRPA, SH2B1 and TEC (By similarity). Interacts with IL23R, SKB1 and STAM2

Subcellular location: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm. Nucleus

6/30 PDB 3D structures from and Proteopedia for JAK2 (see all 30):

2B7A (3D)

2W1I (3D)

2XA4 (3D)

3E62 (3D)

3E63 (3D)

3E64 (3D)

Secondary accessions: O14636 O75297

Explore the universe of human proteins at neXtProt for JAK2: NX_O60674

Post-translational modifications:

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)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60674

4/33 DME Specific Peptides for JAK2 (O60674) (see all 33)

DVSIKQA

DAHHYLC

ECWNNNV

TEVLLKV

JAK2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004963.1

ENSEMBL proteins:

ENSP00000371067 ENSP00000440387 ENSP00000443103

Reactome Protein details: O60674
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant JAK2 Protein
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for JAK2
	OriGene Purified Protein: JAK2 Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for JAK2
	GenScript Custom Purified and Recombinant Proteins Services for JAK2
	Novus Biologicals JAK2 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for JAK2

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IDA	10502458
GO:0005737	cytoplasm	IDA	10502458
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	IEA	--

JAK2 for ontologies About GeneDecksing

JAK2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of JAK2
	R&D Systems Antibodies for JAK2
	Cell Signaling Technology (CST) Antibodies for JAK2
	OriGene Antibodies (see all 2): JAK2 OriGene Custom Antibody Services for JAK2
	GenScript Superior Antibodies for JAK2
	Novus Biologicals JAK2 Antibodies
	Abcam antibodies for JAK2
	Uscn Antibodies for JAK2
	ThermoFisher Antibodies for JAK2

Assay Products for JAK2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for JAK2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for JAK2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

JAK2 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR019748 FERM_central

IPR017441 Protein_kinase_ATP_BS

IPR001245 Ser-Thr/Tyr_kinase_cat_dom

IPR011009 Kinase-like_dom

IPR019749 Band_41_domain

Graphical View of Domain Structure for InterPro Entry O60674

ProtoNet protein and cluster: O60674

2 Blocks protein families:

IPB008266 Tyrosine protein kinase

IPB009127 Janus kinase family signature

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)

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily

Similarity: Contains 1 FERM domain

Similarity: Contains 2 protein kinase domains

Similarity: Contains 1 SH2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: