SLC22A2 (O15244) variants and mutations

SLC22A2 (also known as O15244) is a human protein-coding gene encoding a solute carrier family 22 member 2 protein. It transports organic cations from blood into renal proximal-tubule cells and is important for elimination of drugs such as metformin and cisplatin. Functional variants and drug interactions can alter renal drug clearance and toxicity. This analysis covers 976 SLC22A2 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes chronic kidney disease, prostate carcinoma, and coronary artery disorder. Example SLC22A2 variants include M1?, P2S, and V5G.

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 SLC22A2 variants

Examples include M1?, P2S, V5G, V5M, D6E, D6G, G12R, G13E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.