IDH2 (P48735) variants and mutations

IDH2 (also known as P48735) is a human protein-coding gene encoding an isocitrate dehydrogenase [NADP], mitochondrial protein. It normally generates alpha-ketoglutarate and NADPH inside mitochondria. Recurrent R140 and R172 cancer-associated variants instead produce D-2-hydroxyglutarate, an oncometabolite that drives epigenetic dysregulation in acute myeloid leukemia and other tumors. This analysis covers 1,082 IDH2 variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes D-2-hydroxyglutaric aciduria, glioma, and acute myeloid leukemia. Example IDH2 variants include A2G, A2T, and G3D.

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, MaveDB, LitVar.

Notable IDH2 variants

Examples include A2G, A2T, G3D, G3R, G3V, Y4S, L5P, L5Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.