Reviewed July 2010
What is the official name of the RNASEH2C gene?
The official name of this gene is “ribonuclease H2, subunit C.”
RNASEH2C is the gene's official symbol. The RNASEH2C gene is also known by other names, listed below.
What is the normal function of the RNASEH2C gene?
The RNASEH2C gene provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. This complex is a ribonuclease, which means it is an enzyme that helps break down RNA, a chemical cousin of DNA. In particular, the RNase H2 complex helps break down molecules in which one strand of RNA is combined with one strand of DNA (RNA-DNA hybrids). These hybrids are formed during DNA copying (replication) and are found in all cells.
The RNase H2 complex is involved in DNA replication, error repair, and other cellular functions. Researchers believe that these additional functions may include helping to prevent inappropriate immune system activation.
How are changes in the RNASEH2C gene related to health conditions?
- Aicardi-Goutieres syndrome - caused by mutations in the RNASEH2C gene
At least six mutations in the RNASEH2C gene have been identified in people with Aicardi-Goutieres syndrome. These mutations likely result in a dysfunctional RNase H2 complex. The resulting disruption in cellular functions may lead to an accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), replication of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for those of viral invaders, triggering immune system reactions that cause severe brain dysfunction (encephalopathy), skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome.
Where is the RNASEH2C gene located?
Cytogenetic Location: 11q13.1
Molecular Location on chromosome 11: base pairs 65,717,672 to 65,720,937
The RNASEH2C gene is located on the long (q) arm of chromosome 11 at position 13.1.
More precisely, the RNASEH2C gene is located from base pair 65,717,672 to base pair 65,720,937 on chromosome 11.
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 RNASEH2C?
You and your healthcare professional may find the following resources about RNASEH2C helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1475/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for RNASEH2C (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84153%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=(RNASEH2C%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/610330)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=84153)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=24116)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/84153)
What other names do people use for the RNASEH2C gene or gene products?
- aicardi-Goutieres syndrome 3 protein
- ribonuclease H2 subunit C
- ribonuclease HI subunit C
- RNase H1 small subunit
- RNase H2 subunit C
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 RNASEH2C?
cell division ;
DNA repair ;
DNA replication ;
immune system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM. Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex. Nucleic Acids Res. 2009 Jan;37(1):96-110. doi: 10.1093/nar/gkn913. Epub 2008 Nov 16. (http://www.ncbi.nlm.nih.gov/pubmed/19015152?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/84153)
- OMIM: RIBONUCLEASE H2, SUBUNIT C (http://omim.org/entry/610330)
- Perrino FW, Harvey S, Shaban NM, Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422-3. Epub 2008 Nov 26. (http://www.ncbi.nlm.nih.gov/pubmed/19034401?dopt=Abstract)
- Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4. (http://www.ncbi.nlm.nih.gov/pubmed/17846997?dopt=Abstract)
- Rigby RE, Leitch A, Jackson AP. Nucleic acid-mediated inflammatory diseases. Bioessays. 2008 Sep;30(9):833-42. doi: 10.1002/bies.20808. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18693262?dopt=Abstract)
- Shaban NM, Harvey S, Perrino FW, Hollis T. The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction. J Biol Chem. 2010 Feb 5;285(6):3617-24. doi: 10.1074/jbc.M109.059048. Epub 2009 Nov 18. (http://www.ncbi.nlm.nih.gov/pubmed/19923215?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.