IL12B (interleukin 12B)
- symbol:
- IL12B
- locus group:
- protein-coding gene
- location:
- 5q33.3
- gene_family:
- Immunoglobulin-like domain containing|Interleukins
- alias symbol:
- CLMF|IL-12B|NKSF|CLMF2
- alias name:
- natural killer cell stimulatory fa…
- entrez id:
- 3593
- ensembl gene id:
- ENSG00000113302
- ucsc gene id:
- uc003lxr.2
- refseq accession:
- NM_002187
- hgnc_id:
- HGNC:5970
- approved reserved:
- 1991-08-08
IL12B基因编码白细胞介素12的p40亚基，是IL-12和IL-23细胞因子的共同组成部分，主要由树突状细胞和巨噬细胞等抗原呈递细胞产生。它在免疫系统中发挥核心作用，通过激活Th1型免疫反应促进干扰素γ（IFN-γ）的产生，从而增强对细胞内病原体的防御能力。IL12B属于IL-12细胞因子家族，该家族成员均以异源二聚体形式存在并参与调节先天和适应性免疫应答。IL12B的突变可能导致免疫功能异常，如增加对分枝杆菌感染的易感性，而某些IL12B多态性与自身免疫性疾病如银屑病、炎症性肠病的发病风险相关。过表达IL12B可能引发过度炎症反应，导致组织损伤或自身免疫疾病；而表达降低则可能削弱抗感染免疫，增加感染风险。IL12B的表达水平还影响其他免疫相关基因如IFNG、TNF的表达，形成复杂的免疫调控网络。在癌症免疫治疗中，IL12B的调控受到关注，因其既能增强抗肿瘤免疫又可能促进免疫相关不良反应。
This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
这个基因编码白细胞介素12，作用于T和自然杀伤细胞的细胞因子的一个亚单位，并且具有生物活性的广泛阵列。白细胞介素12是像由该基因编码亚基的40kD的细胞因子受体所组成的二硫键连接的异二聚体，和一个35 kD的亚基通过IL12A编码。这种细胞因子通过激活巨噬细胞作为Th1细胞发展的一个重要诱导表达。这种细胞因子已被发现是用于维持足够数量的记忆/效应Th1细胞介导长期保护的细胞内病原体重要。在患有多发性硬化（MS）在中枢神经系统中观察到这种基因的过表达，这表明该细胞因子在疾病的发病机理中的作用。该基因的启动子多态性已被报道与小儿过敏性和非过敏性哮喘的严重程度相关联。 [由RefSeq的，2008年7月提供]
基因本体信息
IL12B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
IL12B基因的本体（GO）信息：
| 名称 |
|---|
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
| 4622 RIG-I-like receptor signaling pathway [PATH:hsa04622] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5321 Inflammatiory bowel disease (IBD) [PATH:hsa05321] |
| 5330 Allograft rejection [PATH:hsa05330] |
| 4940 Type I diabetes mellitus [PATH:hsa04940] |
| 5133 Pertussis [PATH:hsa05133] |
| 5134 Legionellosis [PATH:hsa05134] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5162 Measles [PATH:hsa05162] |
| 5164 Influenza A [PATH:hsa05164] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5140 Leishmaniasis [PATH:hsa05140] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 5143 African trypanosomiasis [PATH:hsa05143] |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Psoriasis | 0.302990629 | 38 | 7 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
| Asthma | 0.154200471 | 17 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Crohn Disease | 0.144832032 | 20 | 3 | BeFree_CTD_human_GAD |
| Arthritis, Psoriatic | 0.135178339 | 12 | 4 | BeFree_CTD_human_GAD_LHGDN |
| Ulcerative Colitis | 0.134092571 | 13 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Lupus Erythematosus, Systemic | 0.12554839 | 5 | 0 | BeFree_CTD_human_GAD |
| Ankylosing spondylitis | 0.123452799 | 4 | 1 | BeFree_CTD_human_GAD |
| Glioma | 0.122367032 | 2 | 0 | CTD_human_GAD |
| Takayasu Arteritis | 0.121085767 | 4 | 1 | BeFree_ORPHANET |
| Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
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