RNASEH2A

RNASEH2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P56, 3PUF
Identifiers
Aliases	RNASEH2A, AGS4, JUNB, RNASEHI, RNHIA, RNHL, ribonuclease H2 subunit A, THSD8
External IDs	OMIM: 606034 MGI: 1916974 HomoloGene: 4664 GeneCards: RNASEH2A
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.13 Start 12,806,584 bp[1] End 12,813,640 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C3 Start 85,683,239 bp[2] End 85,696,396 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence stromal cell of endometrium placenta lymph node bone marrow spleen rectum appendix duodenum right uterine tube Top expressed in seminiferous tubule spermatid spermatocyte hand lip adrenal gland yolk sac medial ganglionic eminence abdominal wall primitive streak 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 [3] [4]
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.^[5]

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.^[5]

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.^[5]

References

Further reading

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.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 17 April 2022, at 01:59