This gene is found on the short arm of chromosome 8 (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons.
The protein acts as a homodimer and is involved in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis.
Mutations in the SLC20a2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome). This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.
^Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L (Nov 2006). "Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2". Am J Physiol Cell Physiol291 (6): C1377–87. doi:10.1152/ajpcell.00015.2006. PMID16790504.
^Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (February 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat Genet44 (3): 254–6. doi:10.1038/ng.1077. PMID22327515.
Bottger P, Pedersen L (2003). "Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function.". J. Biol. Chem.277 (45): 42741–7. doi:10.1074/jbc.M207096200. PMID12205090.
Bøttger P, Pedersen L (2005). "Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.". FEBS J.272 (12): 3060–74. doi:10.1111/j.1742-4658.2005.04720.x. PMID15955065.
Ravera S, Virkki LV, Murer H, Forster IC (2007). "Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.". Am. J. Physiol., Cell Physiol.293 (2): C606–20. doi:10.1152/ajpcell.00064.2007. PMID17494632.