IL6ST (interleukin 6 cytokine family signal transducer)
- symbol:
- IL6ST
- locus group:
- protein-coding gene
- location:
- 5q11.2
- gene_family:
- CD molecules|Fibronectin type III domain containing|Interleukin receptors
- alias symbol:
- GP130|CD130|sGP130|IL-6RB
- alias name:
- gp130, oncostatin M receptor|Inter…
- entrez id:
- 3572
- ensembl gene id:
- ENSG00000134352
- ucsc gene id:
- uc003jqq.4
- refseq accession:
- NM_002184
- hgnc_id:
- HGNC:6021
- approved reserved:
- 1991-08-12
IL6ST（Interleukin 6 Signal Transducer），也称为gp130，是细胞因子受体家族的重要成员，属于I型细胞因子受体家族。该基因编码的蛋白gp130是一种跨膜信号转导蛋白，是多种细胞因子（如IL-6、IL-11、LIF、OSM等）的共同受体亚基。gp130本身不具备直接结合配体的能力，但与其他特异性受体亚基（如IL-6R）结合形成复合物后，可激活下游JAK-STAT、MAPK和PI3K-AKT等信号通路，调控细胞增殖、分化、免疫应答和炎症反应等关键生物学过程。gp130在全身广泛表达，尤其在免疫系统、肝脏、造血系统和神经系统中发挥重要作用。IL6ST基因突变可能导致信号转导异常，与多种疾病相关。功能缺失突变可能引起高IgE综合征、免疫缺陷或生长发育异常，而功能获得性突变或持续激活则与炎症性疾病（如类风湿关节炎）、癌症（如多发性骨髓瘤）及心血管疾病密切相关。IL6ST过表达会增强下游STAT3的活化，促进炎症反应和肿瘤细胞存活，而表达降低则可能导致免疫应答缺陷或造血功能障碍。该基因属于IL-6受体家族，家族成员均通过gp130或相关蛋白传递信号，共同调节免疫和代谢平衡。研究gp130的功能机制对开发炎症、自身免疫病和癌症的靶向治疗（如托珠单抗）具有重要意义。
The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
由该基因编码的蛋白质是由许多细胞因子，包括白细胞介素6（IL6）共享一个信号转换器，睫状神经营养因子（CNTF），白血病抑制因子（LIF），和制瘤素M（OSM）。该蛋白质作为细胞因子受体复合物的一部分。这种蛋白质的活化依赖于细胞因子的与其受体的结合。 vIL6，有关IL6和由卡波西肉瘤相关疱疹病毒编码的蛋白，可以绕过白细胞介素6受体（IL6R）和直接激活该蛋白质。在小鼠中敲除的研究表明，该基因在调节细胞凋亡的关键作用。可变剪接转录物变体已有描述。一个相关的假基因已被确定在[由RefSeq的，2014年5月提供] 17号染色??体
基因本体信息
IL6ST基因（以及对应的蛋白质）的细胞分布位置：
- 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
IL6ST基因的本体（GO）信息：
| 名称 |
|---|
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 名称 |
|---|
| Activated TLR4 signalling |
| ARMS-mediated activation |
| Axon guidance |
| 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 |
| 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 |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| GRB2 events in EGFR signaling |
| GRB2 events in ERBB2 signaling |
| IGF1R signaling cascade |
| Immune System |
| Innate Immune System |
| Insulin receptor signalling cascade |
| Interleukin-2 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 |
| Prolonged ERK activation events |
| RAF/MAP kinase cascade |
| 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 |
| Rheumatoid Arthritis | 0.204538567 | 9 | 2 | BeFree_CTD_human_GAD_MGD |
| Pneumonia | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Hypersensitivity | 0.12 | 1 | 0 | CTD_human |
| Reperfusion Injury | 0.12 | 1 | 0 | CTD_human |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| ovarian neoplasm | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Infarction, Middle Cerebral Artery | 0.12 | 1 | 0 | CTD_human |
| Colorectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
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。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
