Solute Carrier Family 17, Member 2 (SLC17A2)

By searching for genes in a region of chromosome 6 associated with hereditary hemochromatosis (HFE), Ruddy et al. (1997) identified SLC17A2, which they called NPT3.

The 436-amino acid protein has 4 transmembrane domains. Northern blot analysis detected an 8-kb transcript with high expression in heart and skeletal muscle and lower expression in brain, placenta, lung, liver, and pancreas. RT-PCR analysis showed expression in small intestine, kidney, liver, spleen, and testis. By genomic sequence analysis, Ruddy et al. (1997) mapped the SLC17A2 gene to chromosome 6p21.3, where it lies 0.15 Mb centromeric to the SLC17A1 gene.Ruddy et al. (1997) determined that the SLC17A2 gene contains 9 exons.