RNASEH2C

RNASEH2C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P56, 3PUF
Identifiers
Aliases	RNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C
External IDs	OMIM: 610330; MGI: 1915459; HomoloGene: 32666; GeneCards: RNASEH2C; OMA:RNASEH2C - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.1 Start 65,714,005 bp[1] End 65,720,818 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 5,651,901 bp[2] End 5,657,047 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell tendon of biceps brachii apex of heart right auricle left coronary artery right hemisphere of cerebellum thoracic aorta ascending aorta right adrenal gland Descending thoracic aorta Top expressed in internal carotid artery saccule otic placode external carotid artery otic vesicle Paneth cell granulocyte tibiofemoral joint fossa condyle More reference expression data BioGPS n/a
Gene ontology Molecular function RNA-DNA hybrid ribonuclease activity Cellular component nucleus ribonuclease H2 complex Biological process RNA catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84153 68209 Ensembl ENSG00000172922 ENSMUSG00000024925 UniProt Q8TDP1 Q9CQ18 RefSeq (mRNA) NM_032193 NM_026616 RefSeq (protein) NP_115569 NP_080892 Location (UCSC) Chr 11: 65.71 – 65.72 Mb Chr 19: 5.65 – 5.66 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. ^[5] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C), and degrades the RNA of RNA:DNA hybrids.

Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3).^[5][6]

Function

This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.

References

1. GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024925 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Ribonuclease H2 subunit C". Retrieved 2017-02-27.
6. Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. (Aug 2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nature Genetics. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.

Further reading

• Behlke MA, Bogan JS, Beer-Romero P, Page DC (1993). "Evidence that the SRY protein is encoded by a single exon on the human Y chromosome". Genomics. 17 (3): 736–9. doi:10.1006/geno.1993.1395. PMID 8244390.
• Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM (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.

External links

• Overview of all the structural information available in the PDB for UniProt: Q8TDP1 (Human Ribonuclease H2 subunit C (RNASEH2C)) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.