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Genetics Home Reference: your guide to understanding genetic conditions
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RARS2

Reviewed December 2009

What is the official name of the RARS2 gene?

The official name of this gene is “arginyl-tRNA synthetase 2, mitochondrial.”

RARS2 is the gene's official symbol. The RARS2 gene is also known by other names, listed below.

What is the normal function of the RARS2 gene?

The RARS2 gene provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase. This enzyme is active in cell structures called mitochondria. Each cell contains hundreds or thousands of mitochondria, which convert the energy from food into a form that cells can use.

Within mitochondria, mitochondrial arginyl-tRNA synthetase interacts with a molecule called transfer RNA (tRNA). This molecule, which is a chemical cousin of DNA, helps assemble protein building blocks called amino acids into functioning proteins. To build new proteins, tRNA must collect different amino acids and then attach them to one another in the correct order. Mitochondrial arginyl-tRNA synthetase is one of several enzymes that link amino acids to tRNA. Specifically, this enzyme links the amino acid arginine to the tRNA molecule, which then incorporates it into new proteins in mitochondria.

How are changes in the RARS2 gene related to health conditions?

pontocerebellar hypoplasia - caused by mutations in the RARS2 gene

At least one mutation in the RARS2 gene has been found to cause pontocerebellar hypoplasia type 6 (PCH6). This mutation, which is written as IVS2+5A-G, disrupts the way the gene's instructions are used to make mitochondrial arginyl-tRNA synthetase. As a result, cells produce an abnormally short, nonfunctional version of this enzyme. A shortage of functional mitochondrial arginyl-tRNA synthetase prevents the normal assembly of new proteins within mitochondria. However, it is unclear how these changes disrupt normal brain development in people with PCH6.

Where is the RARS2 gene located?

Cytogenetic Location: 6q16.1

Molecular Location on chromosome 6: base pairs 88,224,095 to 88,299,734

The RARS2 gene is located on the long (q) arm of chromosome 6 at position 16.1.

The RARS2 gene is located on the long (q) arm of chromosome 6 at position 16.1.

More precisely, the RARS2 gene is located from base pair 88,224,095 to base pair 88,299,734 on chromosome 6.

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 RARS2?

You and your healthcare professional may find the following resources about RARS2 helpful.

  • Educational resources - Information pages
    Molecular Cell Biology (fourth edition, 2000): Recognition of a tRNA by aminoacyl synthetases. (http://www.ncbi.nlm.nih.gov/books/NBK21603/?rendertype=figure&id=A884)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for RARS2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57038%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=((RARS2%5BTIAB%5D)%20OR%20(RARSL%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/611524)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/57038)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=57038)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=21406)

What other names do people use for the RARS2 gene or gene products?

  • arginine-tRNA ligase
  • arginyl-tRNA synthetase 2, mitochondrial precursor
  • arginyl-tRNA synthetase-like
  • ArgRS
  • DALRD2
  • dJ382I10.6
  • MGC14993
  • MGC23778
  • PRO1992
  • RARSL
  • SYRM_HUMAN

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 RARS2?

acids ; amino acid ; cell ; DNA ; enzyme ; gene ; hypoplasia ; ligase ; mitochondria ; molecule ; mutation ; protein ; RNA ; transfer RNA ; tRNA

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. Epub 2007 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/17847012?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/57038)
  • OMIM: ARGINYL-tRNA SYNTHETASE 2 (http://omim.org/entry/611524)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2009
Published: May 20, 2013