ABCC4 (O15439) variants and mutations

ABCC4 (also known as O15439) is a human protein-coding gene encoding an ATP-binding cassette sub-family C member 4 protein. It exports cyclic nucleotides, prostaglandins, bile-acid conjugates, and many drugs from cells, thereby shaping intracellular signaling and drug disposition. Functional variation can alter exposure to selected medications and the handling of endogenous metabolites. This analysis covers 1,564 ABCC4 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes mental disorder, trauma complication, and cataract. Example ABCC4 variants include P3L, P3R, and P3S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 ABCC4 variants

Examples include P3L, P3R, P3S, V4E, V4M, Y5H, Q6L, Q6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.