RNASEH2C

Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. [4] 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.

RNASEH2C
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C
External IDsOMIM: 610330 MGI: 1915459 HomoloGene: 32666 GeneCards: RNASEH2C
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q13.1Start65,714,005 bp[1]
End65,720,818 bp[1]
Orthologs
SpeciesHumanMouse
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 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3).[4][5]


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. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: Ribonuclease H2 subunit C". Retrieved 2017-02-27.
  5. 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
  • Overview of all the structural information available in the PDB for UniProt: Q8TDP1 (Human Ribonuclease H2 subunit C (RNASEH2C)) at the PDBe-KB.

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