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URL of this page: https://medlineplus.gov/genetics/gene/rnaseh2b/

RNASEH2B gene

ribonuclease H2 subunit B

Normal Function

The RNASEH2B 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 molecules that contain RNA, a chemical cousin of DNA. In particular, the RNase H2 complex helps break down a specific type of molecule that is made up of one strand of RNA and one strand of DNA (RNA-DNA hybrids). RNA-DNA hybrids are formed during DNA copying (replication) and are found in all cells.

The RNase H2 complex is also thought to be involved in DNA replication and error repair. This complex also likely plays an important role in the immune system by removing unnecessary pieces of DNA that might otherwise trigger an immune response.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants (also called mutations) in the RNASEH2B gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. The RNASEH2B gene mutations that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When this complex is not functioning properly, it may disrupt transcription, DNA replication, DNA repair, cell death (apoptosis), or other processes. Such disruptions are thought to lead to the accumulation of unneeded DNA and RNA in cells. These DNA and RNA fragments may be mistaken for the genetic material of viral invaders, triggering immune system reactions in multiple body systems that cause the signs and symptoms of Aicardi-Goutières syndrome.

More About This Health Condition

Other Names for This Gene

  • ribonuclease H2, subunit B
  • ribonuclease HI subunit B
  • RNase H2 subunit B
  • RNH2B_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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. Citation on PubMed or Free article on PubMed Central
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  • Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1475/ Citation on PubMed
  • Cuadrado E, Michailidou I, van Bodegraven EJ, Jansen MH, Sluijs JA, Geerts D, Couraud PO, De Filippis L, Vescovi AL, Kuijpers TW, Hol EM. Phenotypic variation in Aicardi-Goutieres syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. J Immunol. 2015 Apr 15;194(8):3623-33. doi: 10.4049/jimmunol.1401334. Epub 2015 Mar 13. Citation on PubMed
  • Feng S, Cao Z. Is the role of human RNase H2 restricted to its enzyme activity? Prog Biophys Mol Biol. 2016 May;121(1):66-73. doi: 10.1016/j.pbiomolbio.2015.11.001. Epub 2015 Nov 19. Citation on PubMed
  • Livingston JH, Crow YJ. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres Syndrome and Beyond. Neuropediatrics. 2016 Dec;47(6):355-360. doi: 10.1055/s-0036-1592307. Epub 2016 Sep 19. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
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  • Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Citation on PubMed or Free article on PubMed Central

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