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SLC20A2
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SLC20A2

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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.

Read more about gene names and symbols on the About page.

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? 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 42,273,979 to 42,397,355

The SLC20A2 gene is located on the short (p) arm of chromosome 8 at position 11.21.

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 42,273,979 to base pair 42,397,355 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC20A2?

You and your healthcare professional may find the following resources about SLC20A2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC20A2 gene or gene products?

  • gibbon ape leukemia virus receptor 2
  • GLVR2
  • GLVR-2
  • MLVAR
  • murine leukemia virus, amphotropic, receptor for
  • PIT2
  • PIT-2
  • S20A2_HUMAN
  • sodium-dependent phosphate transporter 2

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC20A2?

acids ; amino acid ; atom ; calcification ; calcium ; carrier ; cell ; cell membrane ; DNA ; expressed ; familial ; gene ; homeostasis ; idiopathic ; ions ; leukemia ; metabolic processes ; mutation ; nucleic acid ; phosphate ; protein ; receptor ; sodium ; solute ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: February 2013
Published: February 11, 2013