IL2RA
Chr 10ARinterleukin 2 receptor subunit alpha
The interleukin-2 receptor alpha chain controls immune tolerance by regulating regulatory T cell activity, which suppresses autoreactive T cell activation and expansion. Autosomal recessive mutations cause immunodeficiency with lymphoproliferation and autoimmunity, and confer susceptibility to insulin-dependent diabetes mellitus. This gene is moderately constrained against loss-of-function variation (LOEUF 0.658).
Definitive — sufficient evidence for diagnostic panels
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
IL2RA · 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
CD4CAR for CD4+ Leukemia and Lymphoma
RECRUITINGA Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGImmun Checkpoint Washout in Patients With Invasive Ductal Breast Cancer
RECRUITINGIBI363 vs Docetaxel in Patients With Advanced Squamous Lung Cancer After Standard Treatments Have Failed
RECRUITINGExternal Resources
Links to major genomics databases and tools