MDM2 (E3 ubiquitin-protein ligase Mdm2) variants and mutations

MDM2 (also known as E3 ubiquitin-protein ligase Mdm2) is a human protein-coding gene encoding an e3 ubiquitin-protein ligase protein. It restrains the p53 pathway by binding p53 and promoting its ubiquitination and degradation. Amplification or overexpression can disable p53-mediated tumor suppression without TP53 mutation and is therefore a major therapeutic target in cancer. This analysis covers 382 MDM2 variants and mutations. Of these, 45% have computational variant effect predictions. Disease context includes Lessel-Kubisch syndrome, cancer, and prostate carcinoma. Example MDM2 variants include C2R, C2F, and N3S.

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 MDM2 variants

Examples include C2R, C2F, N3S, T4I, N5K, N5H, N5S, N5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.