IL5RA
Chr 3interleukin 5 receptor subunit alpha
Also known as: CD125, CDw125, HSIL5R3, IL5R
The IL5RA protein is the interleukin-5 specific alpha subunit of a heterodimeric cytokine receptor that regulates eosinophil survival, differentiation, and chemotaxis through JAK-STAT signaling. Mutations cause primary immunodeficiency with eosinophilia and increased susceptibility to infections, following an autosomal recessive inheritance pattern. The gene shows minimal constraint against loss-of-function variants, consistent with viable homozygous loss in patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IL5RA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools