ABCG2 (Q9UNQ0) variants and mutations

ABCG2 (also known as Q9UNQ0) is a human protein-coding gene encoding a broad substrate specificity ATP-binding cassette transporter protein. It exports many drugs, metabolites, urate, and dietary compounds from cells and is active at intestinal, hepatic, renal, placental, and barrier tissues. Functional variation can alter drug disposition and uric-acid handling, while overexpression can promote multidrug resistance. This analysis covers 1,023 ABCG2 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes gout, hyperuricemia, and arthropathy. Example ABCG2 variants include S2F, S3C, and N5S.

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 ABCG2 variants

Examples include S2F, S3C, N5S, V6G, E7D, E7K, V8A, V8F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.