IL2RB (P14784) variants and mutations

IL2RB (also known as P14784) is a human protein-coding gene encoding an interleukin-2 receptor subunit beta protein. It transmits signals from IL-2 and IL-15 that are essential for regulatory T cells, natural-killer cells, and memory lymphocytes. Biallelic pathogenic variants can cause combined immunodeficiency with prominent autoimmunity and defective immune regulation. This analysis covers 1,084 IL2RB variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes Immunodeficiency syndrome with autoimmunity, primary cutaneous T-cell non-Hodgkin lymphoma, and multiple sclerosis. Example IL2RB variants include A2T, A2V, and A3G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IL2RB variants

Examples include A2T, A2V, A3G, A3S, A3V, P4L, P4T, A5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.