IL6R (interleukin 6 receptor)
- symbol:
- IL6R
- locus group:
- protein-coding gene
- location:
- 1q21.3
- gene_family:
- CD molecules|Immunoglobulin-like domain containing|Interleukin receptors
- alias symbol:
- CD126|IL-6R|IL-1Ra|IL6RA|gp80
- alias name:
- membrane glycoprotein 80|interleuk…
- entrez id:
- 3570
- ensembl gene id:
- ENSG00000160712
- ucsc gene id:
- uc001fez.2
- refseq accession:
- NM_000565
- hgnc_id:
- HGNC:6019
- approved reserved:
- 2001-06-22
IL6R基因编码白细胞介素6受体（Interleukin-6 Receptor），是细胞因子受体超家族成员之一。该基因位于1号染色体上（1q21.3），其表达产物包含配体结合亚基（IL-6Rα）和信号转导亚基（gp130）。IL-6R主要介导IL-6信号传导，在免疫调节、炎症反应、造血、肝脏急性期反应及代谢调控中发挥核心作用。其生物学功能特点是既能通过经典膜结合受体途径（主要在肝细胞和免疫细胞表面），又能通过可溶性受体（sIL-6R）进行反式信号传导（广泛作用于缺乏膜受体的细胞）。主要作用位点包括肝细胞（诱导急性期蛋白合成）、B细胞（促进浆细胞分化）、破骨细胞（促进骨吸收）等。该基因突变可导致功能异常，如IL6R Asp358Ala多态性与可溶性受体水平升高相关，可能降低经典信号而增强反式信号，与冠心病、类风湿关节炎等疾病易感性相关。IL6R过表达会持续激活JAK-STAT3通路，促进慢性炎症和肿瘤发生（如多发性骨髓瘤）；而表达降低则可能导致免疫缺陷、贫血等。该基因属于I型细胞因子受体家族，该家族共性包括：具有保守的细胞外结构域（含WSXWS基序），通过JAK-STAT通路转导信号，多数需要共享亚基（如gp130）形成功能性受体复合物。IL6R与多种疾病密切相关，包括细胞因子风暴（如COVID-19重症）、自身免疫病（如类风湿关节炎）、癌症和Castleman病等。针对IL6R的单抗药物（如托珠单抗）已用于临床治疗这些疾病。
This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
该基因编码白细胞介素6（IL6）受体复合体的一个亚基。白细胞介素6是一种有效的多效细胞因子，调节细胞生长和分化，并在免疫应答中起重要作用。该IL6受体是一种蛋白复合物由这种蛋白和白细胞介素6信号转导（IL6ST / GP130 / IL6-β），一个受体亚基也被许多其它细胞因子共同的。失调生产IL6和该受体的有牵连的许多疾病，如多发性骨髓瘤，自身免疫性疾病和前列腺癌的发病机制。选择性剪接transcrIPT变体编码不同同种型已被报道。该基因的假基因是在[由RefSeq的，2011年5月提供] 9号染色体发现
基因本体信息
IL6R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
IL6R基因的本体（GO）信息：
| 名称 |
|---|
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| 4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
| 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 | 0.247719925 | 15 | 5 | BeFree_CTD_human_GAD_GWASCAT |
| Asthma | 0.130553895 | 7 | 2 | BeFree_GAD_GWASCAT |
| Coronary heart disease | 0.126634157 | 9 | 5 | BeFree_GAD_GWASCAT |
| Schizophrenia | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
| Fibrinogen Adverse Event | 0.122367032 | 2 | 3 | GAD_GWASCAT |
| Non-Small Cell Lung Carcinoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Osteoporosis | 0.12 | 1 | 0 | CTD_human |
| Multi-centric Castleman's Disease | 0.12 | 0 | 0 | ORPHANET |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Renal Cell Carcinoma | 0.12 | 1 | 0 | CTD_human |
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