RNASEH2C

Protein-coding gene in the species Homo sapiens
RNASEH2C
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3P56, 3PUF

Identifiers
AliasesRNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C
External IDsOMIM: 610330 MGI: 1915459 HomoloGene: 32666 GeneCards: RNASEH2C
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for RNASEH2C
Genomic location for RNASEH2C
Band11q13.1Start65,714,005 bp[1]
End65,720,818 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for RNASEH2C
Genomic location for RNASEH2C
Band19|19 AStart5,651,901 bp[2]
End5,657,047 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pancreatic ductal cell

  • left coronary artery

  • thoracic aorta

  • ascending aorta

  • right adrenal gland

  • vena cava

  • left uterine tube

  • pericardium

  • popliteal artery

  • bone marrow
Top expressed in
  • internal carotid artery

  • saccule

  • otic placode

  • external carotid artery

  • Paneth cell

  • fossa

  • condyle

  • renal corpuscle

  • facial motor nucleus

  • yolk sac
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
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 MbChr 19: 5.65 – 5.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
  • v
  • t
  • e

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