RNASEH2A

RNASEH2A
Identifiers
Aliases	RNASEH2A, AGS4, JUNB, RNASEHI, RNHIA, RNHL, ribonuclease H2 subunit A, THSD8
External IDs	OMIM: 606034; MGI: 1916974; HomoloGene: 4664; GeneCards: RNASEH2A; OMA:RNASEH2A - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P56, 3PUF
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.1.26.4 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.13 Start 12,806,584 bp End 12,813,640 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 C3 Start 85,683,239 bp End 85,696,396 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone gonad mucosa of transverse colon granulocyte stromal cell of endometrium placenta lymph node mucosa of esophagus bone marrow Top expressed in seminiferous tubule spermatid spermatocyte gastrula ventricular zone embryo embryo hand epiblast otic vesicle More reference expression data BioGPS n/a
Gene ontology Molecular function RNA binding nucleic acid binding nuclease activity endonuclease activity RNA-DNA hybrid ribonuclease activity ribonuclease activity hydrolase activity metal ion binding Cellular component ribonuclease H2 complex nucleus nucleoplasm cytosol Biological process DNA mismatch repair DNA replication RNA catabolic process RNA metabolic process nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic RNA phosphodiester bond hydrolysis DNA replication, removal of RNA primer Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10535 69724 Ensembl ENSG00000104889 ENSMUSG00000052926 UniProt O75792 Q9CWY8 RefSeq (mRNA) NM_006397 NM_027187 NM_001364370 RefSeq (protein) NP_006388 NP_081463 NP_001351299 Location (UCSC) Chr 19: 12.81 – 12.81 Mb Chr 8: 85.68 – 85.7 Mb PubMed search
Wikidata
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Ribonuclease H2 subunit A, also known as RNase H2 subunit A, is an enzyme that in humans is encoded by the RNASEH2A gene.

Function

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNaseH2). The other two subunits are the non-catalytic RNASEH2B and RNASEH2C. RNaseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes.

Clinical significance

Mutations in this gene cause Aicardi–Goutières syndrome (AGS), an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.

Further reading

• Crow YJ, Leitch A, Hayward BE, et al. (2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nat. Genet. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.
• Chon H, Vassilev A, DePamphilis ML, et al. (2009). "Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex". Nucleic Acids Res. 37 (1): 96–110. doi:10.1093/nar/gkn913. PMC 2615623. PMID 19015152.
• Flanagan JM, Funes JM, Henderson S, et al. (2009). "Genomics screen in transformed stem cells reveals RNASEH2A, PPAP2C, and ADARB1 as putative anticancer drug targets". Mol. Cancer Ther. 8 (1): 249–60. doi:10.1158/1535-7163.MCT-08-0636. PMID 19139135.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Rice G, Patrick T, Parmar R, et al. (2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome". Am. J. Hum. Genet. 81 (4): 713–25. doi:10.1086/521373. PMC 2227922. PMID 17846997.
• Frank P, Braunshofer-Reiter C, Wintersberger U, et al. (1998). "Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII". Proc. Natl. Acad. Sci. U.S.A. 95 (22): 12872–7. Bibcode:1998PNAS...9512872F. doi:10.1073/pnas.95.22.12872. PMC 23637. PMID 9789007.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ganesh SK, Zakai NA, van Rooij FJ, et al. (2009). "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium". Nat. Genet. 41 (11): 1191–8. doi:10.1038/ng.466. PMC 2778265. PMID 19862010.

External links

• GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome
• OMIM entries on Aicardi-Goutieres syndrome
• Overview of all the structural information available in the PDB for UniProt: O75792 (Human Ribonuclease H2 subunit A) at the PDBe-KB.