PIK3R2 (O00459) variants and mutations

PIK3R2 (also known as O00459) is a human protein-coding gene encoding a phosphatidylinositol 3-kinase regulatory subunit beta protein. The p85β regulatory subunit of class IA phosphoinositide 3-kinase, which helps control PI3K–AKT signaling and cell growth. Specific activating variants cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This analysis covers 2,087 PIK3R2 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, and cancer. Example PIK3R2 variants include A2E, A2T, and A2V.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to PIK3R2

Notable PIK3R2 variants

Examples include A2E, A2T, A2V, A2S, A2G, A2A, G3A, G3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.