ANGPTL4 (Angiopoietin-related protein 4) variants and mutations

ANGPTL4 (also known as Angiopoietin-related protein 4) is a human protein-coding gene encoding an angiopoietin-related protein 4 protein. It regulates lipid partitioning by inhibiting lipoprotein lipase in a tissue- and nutritional-state-dependent manner. Loss-of-function variants can lower triglyceride levels and have been associated with reduced coronary-disease risk, although the protein also has broader roles in metabolism and tissue responses. This analysis covers 935 ANGPTL4 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes coronary artery disorder, coronary atherosclerosis, and type 2 diabetes mellitus. Example ANGPTL4 variants include M1I, S2C, and S2G.

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 ANGPTL4 variants

Examples include M1I, S2C, S2G, S2N, S2R, S2I, S2S, G3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.