IL5RA (interleukin 5 receptor subunit alpha)
- symbol:
- IL5RA
- locus group:
- protein-coding gene
- location:
- 3p26.2
- gene_family:
- CD molecules|Interleukin receptors
- alias symbol:
- CDw125|CD125
- alias name:
- None
- entrez id:
- 3568
- ensembl gene id:
- ENSG00000091181
- ucsc gene id:
- uc010hbs.4
- refseq accession:
- NM_000564
- hgnc_id:
- HGNC:6017
- approved reserved:
- 1992-06-18
IL5RA（白细胞介素5受体α亚基）是白细胞介素5（IL-5）的特异性受体，属于I型细胞因子受体家族。它主要表达于嗜酸性粒细胞、嗜碱性粒细胞和B细胞表面，与IL5RB（β亚基）共同形成高亲和力受体复合物，介导IL-5的信号转导。IL-5是一种关键的细胞因子，在嗜酸性粒细胞的增殖、分化、活化及存活中起核心作用，同时参与B细胞的生长和抗体产生。IL5RA通过与IL-5结合激活JAK-STAT、MAPK和PI3K等信号通路，调控下游基因表达。该基因突变可能导致受体功能异常，与嗜酸性粒细胞增多症、哮喘、慢性鼻窦炎伴鼻息肉（CRSwNP）等过敏性和炎症性疾病密切相关。例如，某些IL5RA突变会增强信号传导，导致嗜酸性粒细胞过度活化，加剧组织损伤；而功能缺失突变则可能削弱免疫防御。IL5RA过表达会促进嗜酸性粒细胞介导的炎症反应，加重哮喘等疾病的病理过程；反之，降低表达或使用靶向药物（如美泊利单抗）可减少嗜酸性粒细胞数量，缓解症状。IL5RA属于造血素受体亚家族（hemopoietin receptor family），该家族成员均具有保守的细胞因子受体结构域，通过JAK-STAT通路传递信号，参与免疫调节和血细胞生成。针对IL5RA的靶向治疗已成为嗜酸性粒细胞相关疾病的重要策略。
The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
Gene Ontology
Subcellular localization of IL5RA (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for IL5RA:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4630 Jak-STAT signaling pathway [PATH:hsa04630] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| Name |
|---|
| Cytokine Signaling in Immune system |
| G beta:gamma signalling through PI3Kgamma |
| G-protein beta:gamma signalling |
| GPCR downstream signaling |
| GPVI-mediated activation cascade |
| Hemostasis |
| Immune System |
| Interleukin receptor SHC signaling |
| Interleukin-2 signaling |
| Interleukin-3, 5 and GM-CSF signaling |
| Platelet activation, signaling and aggregation |
| Signal Transduction |
| Signaling by GPCR |
| Signaling by Interleukins |
| Disease | Score | NofPmids | NofSnps | Source |
| Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
| Pneumonia | 0.12 | 1 | 0 | CTD_human |
| Hypersensitivity | 0.12 | 1 | 0 | CTD_human |
| Asthma | 0.013006804 | 5 | 0 | BeFree_GAD_LHGDN |
| Inflammation | 0.007101096 | 3 | 0 | GAD |
| IGA Glomerulonephritis | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
| Multiple Sclerosis | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.004734064 | 2 | 0 | GAD |
| Myeloid Leukemia, Chronic | 0.002638474 | 1 | 0 | BeFree_GAD |
| Respiratory Syncytial Virus Infections | 0.002367032 | 1 | 0 | GAD |
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