Reviewed February 2013
What is the official name of the SLC20A2 gene?
The official name of this gene is “solute carrier family 20 (phosphate transporter), member 2.”
SLC20A2 is the gene's official symbol. The SLC20A2 gene is also known by other names, listed below.
What is the normal function of the SLC20A2 gene?
The SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein plays a major role in regulating phosphate levels within the body (phosphate homeostasis) by transporting phosphate across cell membranes. Phosphate is needed for many functions including the breakdown of substances (metabolic processes), signaling between cells, and the production of DNA building blocks (nucleic acids) and fats. PiT-2 uses positively charged sodium atoms (ions) to transport phosphate across the cell membrane.
Does the SLC20A2 gene share characteristics with other genes?
The SLC20A2 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the SLC20A2 gene related to health conditions?
- familial idiopathic basal ganglia calcification - caused by mutations in the SLC20A2 gene
Approximately 20 SLC20A2 gene mutations have been found to cause familial idiopathic basal ganglia calcification (FIBGC). This condition is characterized by abnormal deposits of calcium (calcification) in the brain and movement and psychiatric problems. Most of the mutations that cause FIBGC 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. In the brain, the excess phosphate combines with calcium and forms deposits.
Although the SLC20A2 gene is active (expressed) throughout the body, its activity is highest in the basal ganglia and other brain regions that are involved in FIBGC, which may explain why the effects of these mutations are limited to these regions.
Where is the SLC20A2 gene located?
Cytogenetic Location: 8p11.21
Molecular Location on chromosome 8: base pairs 42,416,462 to 42,542,213
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6575))
The SLC20A2 gene is located on the short (p) arm of chromosome 8 at position 11.21.
More precisely, the SLC20A2 gene is located from base pair 42,416,462 to base pair 42,542,213 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SLC20A2?
You and your healthcare professional may find the following resources about SLC20A2 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1421)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SLC20A2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6575%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28SLC20A2%5BTIAB%5D%29%20OR%20%28%28PIT-2%5BTIAB%5D%29%20OR%20%28PIT2%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/158378)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC20A2.html)
- HGNC Gene Family: Solute carriers (http://www.genenames.org/cgi-bin/genefamilies/set/752)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10947)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6575)
What other names do people use for the SLC20A2 gene or gene products?
- gibbon ape leukemia virus receptor 2
- murine leukemia virus, amphotropic, receptor for
- sodium-dependent phosphate transporter 2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SLC20A2?
cell membrane ;
metabolic processes ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bøttger P, Hede SE, Grunnet M, Høyer B, Klaerke DA, Pedersen L. 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 Physiol. 2006 Dec;291(6):C1377-87. Epub 2006 Jun 21. (http://www.ncbi.nlm.nih.gov/pubmed/16790504?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21586110?dopt=Abstract)
- Collins JF, Bai L, Ghishan FK. The SLC20 family of proteins: dual functions as sodium-phosphate cotransporters and viral receptors. Pflugers Arch. 2004 Feb;447(5):647-52. Epub 2003 May 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12759754?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/23334463?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6575)
- OMIM: SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2 (http://omim.org/entry/158378)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/22327515?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.