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。
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]
JAK2基因(以及对应的蛋白质)的细胞分布位置:
JAK2基因的本体(GO)信息:
| 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 |
| 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 |
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