IL5RA Gene - Interleukin 5 Receptor Subunit Alpha
A key regulator of eosinophil differentiation and function, implicated in asthma and eosinophilic disorders.
Gene Information Card
| Symbol | IL5RA |
|---|---|
| Full Name | Interleukin 5 Receptor Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 3p26.2 |
| NCBI Gene ID | 3568 ncbi.nlm.nih.gov/gene/3568 |
| Ensembl ID | ENSG00000164292 |
| UniProt ID | Q01344 |
| OMIM ID | 147851 |
| HGNC ID | 6017 |
| Aliases | CD125, IL5R, IL5RX, IL5R-alpha |
Description
The IL5RA gene encodes the alpha subunit of the interleukin-5 receptor, a heterodimeric receptor that binds interleukin-5 (IL5). This receptor is primarily expressed on eosinophils and basophils and is critical for eosinophil development, activation, and survival. IL5RA signaling is mediated through the JAK-STAT pathway, particularly STAT5. The gene is located on chromosome 3p26.2 and produces multiple isoforms via alternative splicing, including a soluble form that can modulate IL5 activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | IL5RA mediates eosinophilic airway inflammation; elevated IL5RA expression correlates with severe asthma. | ClinVar, NCBI |
| Eosinophilic Esophagitis | IL5RA signaling promotes eosinophil accumulation in the esophagus; anti-IL5RA therapies are under investigation. | ClinVar, OMIM |
| Hypereosinophilic Syndrome | Gain-of-function mutations in IL5RA may contribute to persistent eosinophilia. | COSMIC, ClinVar |
| Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss) | IL5RA expression on eosinophils drives tissue damage in vasculitis. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 4.1 | Low |
| Blood | 3.8 | Low |
| Small Intestine | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils | 45.2 | High expression; primary site of IL5RA |
| Basophils | 22.1 | Moderate expression |
| Mast cells | 6.5 | Low expression |
| HL-60 (promyeloblast) | 3.0 | Differentiation-dependent expression |
| K-562 (erythroleukemia) | 1.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.1% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.421C>T (p.Arg141Trp) | Missense | <0.1% | May affect ligand binding; ClinVar uncertain significance |
| c.1135C>T (p.Arg379*) | Nonsense | <0.1% | Predicted loss-of-function; truncation |
| c.1567_1568insA | Frameshift | <0.1% | Loss-of-function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg379*, c.1567_1568insA) are predicted to cause loss of function by truncating the protein, impairing IL5 binding and downstream signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations are currently cataloged in ClinVar or COSMIC for IL5RA. Some missense variants may be suspected but lack functional validation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for IL5RA in the curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interleukin-5 signaling pathway (Reactome: R-HSA-449147)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Hematopoietic cell lineage (KEGG: hsa04640)
Protein Summary
The IL5RA protein (UniProt Q01344) is a 420-amino acid transmembrane glycoprotein that forms the ligand-binding subunit of the IL5 receptor. It consists of an extracellular N-terminal domain containing three fibronectin type III domains and a WSXWS motif, a single transmembrane helix, and a cytoplasmic tail with a proline-rich region essential for JAK2/STAT5 signaling. Alternative splicing generates a soluble isoform (sIL5RA) that lacks the transmembrane domain and can act as a decoy receptor. The protein is heavily N-glycosylated and expressed predominantly on eosinophils and basophils.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL5RA Knockout HEK293 Cell Line | EDJ-KQ497 | Human | 3568 | Details Get a Quote |
| IL5RA Knockout HeLa Cell Line | EDJ-KQ53638 | Human | 3568 | Details Get a Quote |
| IL5RA Knockout A-549 Cell Line | EDJ-KQ62112 | Human | 3568 | Details Get a Quote |
| IL5RA Knockout HCT 116 Cell Line | EDJ-KQ70600 | Human | 3568 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
