MDM4 (Protein Mdm4) variants and mutations

MDM4 (also known as Protein Mdm4) is a human protein-coding gene encoding a protein. It suppresses p53 transcriptional and apoptotic activity, cooperating with MDM2 to limit stress responses. Amplification or overexpression can provide an alternative route to p53 inactivation in tumors that retain wild-type TP53. This analysis covers 1,013 MDM4 variants and mutations. Of these, 48% have computational variant effect predictions. Disease context includes bone marrow failure syndrome 6, prostate carcinoma, and neurodegenerative disease. Example MDM4 variants include T2A, T2R, and T2S.

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 MDM4 variants

Examples include T2A, T2R, T2S, T2T, S3*, S3L, S3P, S3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.