SLC17A2 Gene – Function, Expression, Mutations & Disease Associations | NCBI, UniProt, OMIM

SLC17A2 encodes a sodium-dependent phosphate transporter (NaPi-IIb) that mediates the cotransport of phosphate and sodium ions across the plasma membrane. It is primarily expressed in the kidney (proximal tubule) and plays a critical role in renal phosphate reabsorption, thereby contributing to systemic phosphate homeostasis. Mutations in SLC17A2 are associated with hypophosphatemic nephrolithiasis and osteoporosis. The protein belongs to the SLC17 family of type II sodium-phosphate symporters.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• REACT: R-HSA-427589 – Sodium-dependent phosphate transport

• REACT: R-HSA-425393 – Transport of inorganic phosphate

• REACT: R-HSA-382551 – Transmembrane transport of small molecules

The SLC17A2 protein (NaPi-IIb) is a 656-amino acid multi-pass transmembrane protein that functions as a sodium-phosphate symporter. It contains 8–10 transmembrane domains and is localized to the apical membrane of renal proximal tubule cells. The protein couples the inward sodium gradient to phosphate uptake, with a stoichiometry of 3 Na+ : 1 HPO4^2-. Post-translational modifications include N-glycosylation at Asn-298, which is essential for proper trafficking and activity. Structural studies indicate that the transporter undergoes conformational changes upon substrate binding.