PPARG (P37231) variants and mutations

PPARG (also known as P37231) is a human protein-coding gene encoding a peroxisome proliferator-activated receptor gamma protein. It drives adipocyte differentiation, lipid storage, and insulin-sensitive metabolic programs in response to endogenous lipids and thiazolidinedione drugs. Dominant-negative variants cause familial partial lipodystrophy type 3 with severe insulin resistance and dyslipidemia. This analysis covers 403 PPARG variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, PPARG-related familial partial lipodystrophy, and diabetes mellitus. Example PPARG variants include M1?, M1V, and M1T.

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 PPARG variants

Examples include M1?, M1V, M1T, G2S, G2V, E3K, E3Q, E3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.