ABCC2 (Q92887) variants and mutations

ABCC2 (also known as Q92887) is a human protein-coding gene encoding an ATP-binding cassette sub-family C member 2 protein. It moves bilirubin conjugates, glutathione conjugates, drugs, and other organic anions from hepatocytes into bile. Loss-of-function variants cause Dubin-Johnson syndrome with chronic conjugated hyperbilirubinemia. This analysis covers 2,064 ABCC2 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes Dubin-Johnson syndrome, Intrahepatic cholestasis of pregnancy, and cholestasis. Example ABCC2 variants include M1I, L2L, and L2P.

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 ABCC2 variants

Examples include M1I, L2L, L2P, E3Q, K4R, K4N, F5L, F5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.