IL3RA
Chr Yinterleukin 3 receptor subunit alpha
Also known as: CD123, IL-3R-alpha, IL3R, IL3RAY, IL3RX, IL3RY, hIL-3Ra
The IL3RA protein is the interleukin-3 specific alpha subunit of a cytokine receptor that controls hematopoietic progenitor cell production and differentiation in blood cell lineages. Mutations cause X-linked severe combined immunodeficiency with natural killer cell deficiency, characterized by recurrent severe infections beginning in infancy. This gene is located in the pseudoautosomal region of the X chromosome and shows X-linked inheritance.
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
IL3RA · 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
External Resources
Links to major genomics databases and tools