JAK2基因详情-基因数据库-基因云馆

登录系统

JAK2 (Janus kinase 2)

symbol:: JAK2
locus group:: protein-coding gene
location:: 9p24.1
gene_family:: SH2 domain containing
alias symbol:: JTK10
alias name:: None
entrez id:: 3717
ensembl gene id:: ENSG00000096968
ucsc gene id:: uc003ziw.3
refseq accession:: NM_001322194
hgnc_id:: HGNC:6192
approved reserved:: 1992-04-16

9p24.1

JAK2（Janus激酶2）是一种非受体型酪氨酸激酶，属于JAK激酶家族（包括JAK1、JAK2、JAK3和TYK2）。该家族成员共同特点是具有两个激酶结构域（JH1和JH2），并通过JAK-STAT信号通路参与细胞因子、生长因子和激素的信号转导，调控细胞增殖、分化、凋亡及免疫反应等关键生物学过程。JAK2主要作用位点是细胞膜内侧，当细胞因子（如促红细胞生成素EPO、血小板生成素TPO）与受体结合后，JAK2被激活并磷酸化STAT蛋白，进而影响基因转录。JAK2的功能突变（如V617F）会导致其持续激活，与多种疾病密切相关，例如真性红细胞增多症（PV）、原发性血小板增多症（ET）和骨髓纤维化（MF），这些统称为骨髓增殖性肿瘤（MPN）。V617F突变使JAK2不依赖细胞因子即可自发激活，引发造血干细胞异常增殖。此外，JAK2异常表达还与白血病、自身免疫性疾病（如类风湿关节炎）和某些实体瘤相关。若JAK2过表达，会增强JAK-STAT通路活性，促进细胞过度增殖，可能加速肿瘤发展；而降低表达或抑制其活性（如使用鲁索替尼等JAK2抑制剂）可缓解MPN症状，但可能导致免疫抑制或贫血等副作用。JAK家族成员的共性是依赖JH1结构域催化磷酸化，通过JH2结构域自我抑制，且均参与免疫调节和造血功能。JAK2因其在造血系统中的核心地位，成为血液病治疗的重要靶点。

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]

该基因产物是一种参与细胞因子受体信号通路的特定子集的蛋白酪氨酸激酶。已发现与催乳素受体被constituitively相关联，并且需要到γ干扰素应答。小鼠不表达与不存在明确的红细胞生成的关联该基因表现出胚胎致死的活性的蛋白质。 [由RefSeq的，2008年7月提供]

OMIM数据库中对JAK2基因的介绍 Wikipedia数据库中对JAK2基因的介绍

JAK2基因的碱基序列：[NCBI]

Loading Gene Browser...

JAK2基因的碱基突变：仅显示部分snp

rs884132 rs913594 rs966871 rs1028912 rs1034072 rs1052817 rs1134596 rs1159782 rs1327493 rs1327494 rs1328917 rs1328918 rs1410779 rs1536798 rs1536799 rs1536800 rs1571437

JAK2基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

AACAGGAACAAGATGTGAACTG

TTTCAGAACATTTGCCGTCG

GACAGATGATCGTGTTCCA

GATCATATAGATCTCATCTGGGC

GACAGATGATCGTGTTCCA

GATCATATAGATCTCATCTGGGC

GAGAAGACGGTTTCAGAAGC

TCTGTCATCGTAAGGCAGG

GCAAGCTTTCTCACAAGCA

CAAACTCCTGAACCAGAATATTCTC

GGACAGATGATCGTGTTCC

TCATATAGATCTCATCTGGGCA

AGAAGACGGTTTCAGAAGCA

TTCTGTCATCGTAAGGCAGG

GATGTTTGGAGCTTTGGAGTG

CATAAATTCCGCTGGTGGAC

GGACAGATGATCGTGTTCC

TCATATAGATCTCATCTGGGCA

AACAGGAACAAGATGTGAACTG

TTCAGAACATTTGCCGTCG

转录因子

影响基因

影响类型

参考文献链接（PubMed）

BRCA1

JAK2

Unknown

11163768

ESR1

JAK2

Unknown

19876927

STAT1

JAK2

Activation

21239533

STAT3

JAK2

Activation

17151100

STAT3

JAK2

Unknown

19783654

JAK2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

JAK2基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0000165

O60674 (UniProtKB)

TAS

GO:0000186

O60674 (UniProtKB)

IEA

GO:0002250

O60674 (UniProtKB)

IEA

GO:0004672

O60674 (UniProtKB)

NAS

GO:0004713

O60674 (UniProtKB)

ISS

GO:0004713

O60674 (UniProtKB)

EXP

GO:0004713

O60674 (UniProtKB)

EXP

GO:0004713

O60674 (UniProtKB)

IDA

GO:0004713

O60674 (UniProtKB)

EXP

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004713

O60674 (UniProtKB)

TAS

GO:0004715

O60674 (UniProtKB)

IBA

GO:0004715

O60674 (UniProtKB)

TAS

GO:0004715

O60674 (UniProtKB)

TAS

GO:0004715

O60674 (UniProtKB)

TAS

GO:0005088

O60674 (UniProtKB)

TAS

GO:0005102

O60674 (UniProtKB)

IPI

GO:0005131

O60674 (UniProtKB)

ISS

GO:0005131

O60674 (UniProtKB)

IBA

GO:0005143

O60674 (UniProtKB)

ISS

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005515

O60674 (UniProtKB)

IPI

GO:0005524

O60674 (UniProtKB)

IEA

GO:0005634

O60674 (UniProtKB)

IDA

GO:0005634

O60674 (UniProtKB)

IDA

GO:0005654

O60674 (UniProtKB)

TAS

GO:0005737

O60674 (UniProtKB)

IDA

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005829

O60674 (UniProtKB)

TAS

GO:0005856

O60674 (UniProtKB)

IEA

GO:0005901

O60674 (UniProtKB)

ISS

GO:0006468

O60674 (UniProtKB)

TAS

GO:0006915

O60674 (UniProtKB)

ISS

GO:0006919

O60674 (UniProtKB)

ISS

GO:0006928

O60674 (UniProtKB)

TAS

GO:0007165

O60674 (UniProtKB)

ISS

GO:0007167

O60674 (UniProtKB)

ISS

GO:0007186

O60674 (UniProtKB)

IEA

GO:0007204

O60674 (UniProtKB)

IEA

GO:0007259

O60674 (UniProtKB)

TAS

GO:0007260

O60674 (UniProtKB)

ISS

GO:0007260

O60674 (UniProtKB)

IBA

GO:0007262

O60674 (UniProtKB)

ISS

GO:0007498

O60674 (UniProtKB)

TAS

GO:0007596

O60674 (UniProtKB)

TAS

GO:0008022

O60674 (UniProtKB)

IEA

GO:0008284

O60674 (UniProtKB)

IEA

GO:0008285

O60674 (UniProtKB)

ISS

GO:0008631

O60674 (UniProtKB)

IEA

GO:0010667

O60674 (UniProtKB)

IEA

GO:0010811

O60674 (UniProtKB)

IDA

GO:0014068

O60674 (UniProtKB)

ISS

GO:0016363

O60674 (UniProtKB)

IEA

GO:0016477

O60674 (UniProtKB)

IBA

GO:0018108

O60674 (UniProtKB)

ISS

GO:0019221

O60674 (UniProtKB)

ISS

GO:0019221

O60674 (UniProtKB)

IDA

GO:0019901

O60674 (UniProtKB)

IDA

GO:0020037

O60674 (UniProtKB)

IDA

GO:0022408

O60674 (UniProtKB)

IEA

GO:0030041

O60674 (UniProtKB)

NAS

GO:0030154

O60674 (UniProtKB)

ISS

GO:0030218

O60674 (UniProtKB)

ISS

GO:0030218

O60674 (UniProtKB)

IBA

GO:0030335

O60674 (UniProtKB)

IEA

GO:0031103

O60674 (UniProtKB)

IEA

GO:0031234

O60674 (UniProtKB)

IBA

GO:0031702

O60674 (UniProtKB)

IEA

GO:0031904

O60674 (UniProtKB)

TAS

GO:0031959

O60674 (UniProtKB)

IEA

GO:0032024

O60674 (UniProtKB)

IEA

GO:0032496

O60674 (UniProtKB)

ISS

GO:0032516

O60674 (UniProtKB)

IEA

GO:0032731

O60674 (UniProtKB)

IEA

GO:0032760

O60674 (UniProtKB)

ISS

GO:0033130

O60674 (UniProtKB)

IEA

GO:0033160

O60674 (UniProtKB)

IEA

GO:0033194

O60674 (UniProtKB)

IEA

GO:0033209

O60674 (UniProtKB)

IDA

GO:0034612

O60674 (UniProtKB)

IDA

GO:0035401

O60674 (UniProtKB)

IDA

GO:0035409

O60674 (UniProtKB)

IDA

GO:0035556

O60674 (UniProtKB)

ISS

GO:0035722

O60674 (UniProtKB)

IDA

GO:0038083

O60674 (UniProtKB)

IBA

GO:0042127

O60674 (UniProtKB)

IBA

GO:0042169

O60674 (UniProtKB)

IPI

GO:0042393

O60674 (UniProtKB)

IDA

GO:0042503

O60674 (UniProtKB)

IEA

GO:0042506

O60674 (UniProtKB)

IEA

GO:0042508

O60674 (UniProtKB)

IEA

GO:0042517

O60674 (UniProtKB)

ISS

GO:0042517

O60674 (UniProtKB)

ISS

GO:0042523

O60674 (UniProtKB)

ISS

GO:0042977

O60674 (UniProtKB)

ISS

GO:0042981

O60674 (UniProtKB)

IBA

GO:0043388

O60674 (UniProtKB)

IEA

GO:0043392

O60674 (UniProtKB)

ISS

GO:0043524

O60674 (UniProtKB)

IEA

GO:0043547

O60674 (UniProtKB)

IEA

GO:0043548

O60674 (UniProtKB)

IEA

GO:0043560

O60674 (UniProtKB)

IEA

GO:0045087

O60674 (UniProtKB)

IBA

GO:0045121

O60674 (UniProtKB)

ISS

GO:0045429

O60674 (UniProtKB)

IEA

GO:0045597

O60674 (UniProtKB)

IEA

GO:0045822

O60674 (UniProtKB)

IEA

GO:0046677

O60674 (UniProtKB)

IDA

GO:0046777

O60674 (UniProtKB)

ISS

GO:0046872

O60674 (UniProtKB)

IEA

GO:0048008

O60674 (UniProtKB)

IEA

GO:0050727

O60674 (UniProtKB)

IDA

GO:0050729

O60674 (UniProtKB)

IEA

GO:0050731

O60674 (UniProtKB)

ISS

GO:0050867

O60674 (UniProtKB)

IEA

GO:0051091

O60674 (UniProtKB)

IEA

GO:0051428

O60674 (UniProtKB)

IEA

GO:0051770

O60674 (UniProtKB)

ISS

GO:0060333

O60674 (UniProtKB)

TAS

GO:0060334

O60674 (UniProtKB)

TAS

GO:0060396

O60674 (UniProtKB)

IDA

GO:0060397

O60674 (UniProtKB)

ISS

GO:0060397

O60674 (UniProtKB)

ISS

GO:0060397

O60674 (UniProtKB)

TAS

GO:0060399

O60674 (UniProtKB)

ISS

GO:0061180

O60674 (UniProtKB)

ISS

GO:0070671

O60674 (UniProtKB)

IDA

GO:0097191

O60674 (UniProtKB)

ISS

GO:0097296

O60674 (UniProtKB)

ISS

可能调控 JAK2基因的相关microRNA：

hsa-miR-335 hsa-miR-375 hsa-let-7a hsa-let-7b hsa-let-7b* hsa-miR-10a hsa-miR-10a* hsa-miR-126 hsa-miR-126* hsa-miR-143

Reactome

MINT

BioGrid

IntAct

mentha

String

序号	作用方式	资源库来源/分值	基因名称	基因名称

KEGG
Reactomepathway

名称
4630 Jak-STAT signaling pathway [PATH:hsa04630]
4151 PI3K-Akt signaling pathway [PATH:hsa04151]
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550]
4062 Chemokine signaling pathway [PATH:hsa04062]
4920 Adipocytokine signaling pathway [PATH:hsa04920]
4917 Prolactin signaling pathway [PATH:hsa04917]
4725 Cholinergic synapse [PATH:hsa04725]
5152 Tuberculosis [PATH:hsa05152]
5162 Measles [PATH:hsa05162]
5164 Influenza A [PATH:hsa05164]
5168 Herpes simplex infection [PATH:hsa05168]
5145 Toxoplasmosis [PATH:hsa05145]
5140 Leishmaniasis [PATH:hsa05140]

名称
Activated TLR4 signalling
ARMS-mediated activation
Axon guidance
Chromatin modifying enzymes
Chromatin organization
Cytokine Signaling in Immune system
DAP12 interactions
DAP12 signaling
Developmental Biology
Downstream signal transduction
Downstream signaling of activated FGFR1
Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
Downstream signaling of activated FGFR4
ERK activation
ERK1 activation
ERK2 activation
Factors involved in megakaryocyte development and platelet production
Fc epsilon receptor (FCERI) signaling
FCERI mediated MAPK activation
FRS-mediated FGFR1 signaling
FRS-mediated FGFR2 signaling
FRS-mediated FGFR3 signaling
Frs2-mediated activation
FRS2-mediated FGFR4 signaling
G beta:gamma signalling through PI3Kgamma
G-protein beta:gamma signalling
Gastrin-CREB signalling pathway via PKC and MAPK
GPCR downstream signaling
GPVI-mediated activation cascade
GRB2 events in EGFR signaling
GRB2 events in ERBB2 signaling
Growth hormone receptor signaling
Hemostasis
IGF1R signaling cascade
Immune System
Innate Immune System
Insulin receptor signalling cascade
Interferon gamma signaling
Interferon Signaling
Interleukin receptor SHC signaling
Interleukin-2 signaling
Interleukin-3, 5 and GM-CSF signaling
Interleukin-6 signaling
IRS-mediated signalling
IRS-related events
IRS-related events triggered by IGF1R
MAP kinase activation in TLR cascade
MyD88 cascade initiated on plasma membrane
MyD88 dependent cascade initiated on endosome
MyD88-independent TLR3/TLR4 cascade
MyD88:Mal cascade initiated on plasma membrane
NCAM signaling for neurite out-growth
NGF signalling via TRKA from the plasma membrane
Nuclear signaling by ERBB4
Platelet activation, signaling and aggregation
Prolactin receptor signaling
Prolonged ERK activation events
RAF/MAP kinase cascade
Regulation of IFNG signaling
RMTs methylate histone arginines
SHC-mediated signalling
SHC-related events
SHC-related events triggered by IGF1R
SHC1 events in EGFR signaling
SHC1 events in ERBB2 signaling
SHC1 events in ERBB4 signaling
Signal Transduction
Signaling by EGFR
Signaling by ERBB2
Signaling by ERBB4
Signaling by FGFR
Signaling by FGFR1
Signaling by FGFR2
Signaling by FGFR3
Signaling by FGFR4
Signaling by GPCR
Signaling by Insulin receptor
Signaling by Interleukins
Signaling by Leptin
Signaling by PDGF
Signaling by SCF-KIT
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
Signaling by VEGF
Signalling by NGF
Signalling to ERKs
Signalling to p38 via RIT and RIN
Signalling to RAS
SOS-mediated signalling
Toll Like Receptor 10 (TLR10) Cascade
Toll Like Receptor 2 (TLR2) Cascade
Toll Like Receptor 3 (TLR3) Cascade
Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor 5 (TLR5) Cascade
Toll Like Receptor 7/8 (TLR7/8) Cascade
Toll Like Receptor 9 (TLR9) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Toll Like Receptor TLR6:TLR2 Cascade
Toll-Like Receptors Cascades
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
TRAF6 Mediated Induction of proinflammatory cytokines
TRIF-mediated TLR3/TLR4 signaling
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Polycythemia Vera	0.666276895	365	3	BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Thrombocythemia, Essential	0.461781343	291	6	BeFree_CTD_human_GAD_LHGDN_ORPHANET
Myeloproliferative disease	0.351660654	325	5	BeFree_CTD_human_GAD_LHGDN
Primary Myelofibrosis	0.294051045	271	8	BeFree_CTD_human_GAD_LHGDN
Leukemia, Myelocytic, Acute	0.284782823	46	3	BeFree_CTD_human_GAD_LHGDN_UNIPROT
Budd-Chiari Syndrome	0.255721222	18	2	BeFree_CTD_human_GAD_LHGDN_ORPHANET
Myelofibrosis	0.22904428	107	2	BeFree_MGD_ORPHANET
Thrombocytosis	0.164325815	46	4	BeFree_CTD_human_GAD_LHGDN
Venous Thrombosis	0.160016421	16	0	CTD_human_GAD_LHGDN
Polycythemia	0.149484932	44	4	BeFree_CTD_human_GAD_LHGDN

联系方式

山东省济南市章丘区文博路2号齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

更新于2天前

JAK2 (Janus kinase 2)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关服务

基因相关服务

联系方式

微信公众号