Identification and functional characterization of novel nonsynonymous variants in the human multidrug and toxin extrusion 2-K.

This study was performed to identify genetic polymorphisms in multidrug and toxin extrusion 2-K (MATE2-K, SLC47A2), a proton/organic cation antiporter that plays a role in the transport of organic cations across the apical membrane in kidney epithelial cells into the urine, and to demonstrate their effects on MATE2-K functions in vitro. Four of the thirty single nucleotide polymorphisms (SNPs) we identified in three ethnic groups (Caucasian, African American, and Japanese) were novel [308C>G (P103R), c.487-8C>T, 818A>G (Y273C), and c.