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SLC20A2 gene

solute carrier family 20 member 2
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Normal Function

The SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein is highly active in nerve cells (neurons) in the brain. It plays a major role in regulating the levels of a molecule called phosphate in cells (phosphate homeostasis). Specifically, the PiT-2 protein uses positively charged sodium atoms (ions) to transport phosphate in out and of cell membranes. Phosphate is needed for many cellular functions including the breakdown of substances (metabolic processes), signaling between cells, and the production of DNA building blocks (nucleic acids) and fats.

Health Conditions Related to Genetic Changes

Primary familial brain calcification

More than 60 SLC20A2 gene mutations have been found to cause primary familial brain calcification. This condition is characterized by abnormal deposits of calcium (calcification) in the brain and movement and psychiatric problems. Most of the mutations that cause primary familial brain calcification change single protein building blocks (amino acids) in the PiT-2 protein and severely impair its ability to transport phosphate into cells. As a result, phosphate levels in the bloodstream rise. The excess phosphate combines with calcium and forms deposits within blood vessels in the brain.

Although the SLC20A2 gene is active throughout the body, its activity is highest in structures deep within the brain that help start and control movement (basal ganglia) and in other brain regions that are involved in primary familial brain calcification, which may explain why the effects of these mutations are limited to these regions.

More About This Health Condition

Other Names for This Gene

  • gibbon ape leukemia virus receptor 2
  • GLVR-2
  • GLVR2
  • MLVAR
  • murine leukemia virus, amphotropic, receptor for
  • PIT-2
  • PIT2
  • S20A2_HUMAN
  • sodium-dependent phosphate transporter 2
  • solute carrier family 20 (phosphate transporter), member 2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Bøttger P, Pedersen L. Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochem. 2011 May 17;12:21. doi: 10.1186/1471-2091-12-21. Citation on PubMed or Free article on PubMed Central
  • Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Citation on PubMed or Free article on PubMed Central
  • Inden M, Iriyama M, Zennami M, Sekine SI, Hara A, Yamada M, Hozumi I. The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains. Brain Res. 2016 Apr 15;1637:128-136. doi: 10.1016/j.brainres.2016.02.032. Epub 2016 Feb 26. Citation on PubMed
  • Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, Crow YJ, Campion D, Coppola G, Oliveira JR. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat. 2015 May;36(5):489-95. doi: 10.1002/humu.22778. Epub 2015 Apr 6. Review. Citation on PubMed
  • Taglia I, Formichi P, Battisti C, Peppoloni G, Barghigiani M, Tessa A, Federico A. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. J Cell Physiol. 2018 Mar;233(3):2324-2331. doi: 10.1002/jcp.26104. Epub 2017 Sep 18. Citation on PubMed
  • 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. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Citation on PubMed
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