RNASEH2C

RNASEH2C
Identifiers
Aliases	RNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C
External IDs	OMIM: 610330; MGI: 1915459; HomoloGene: 32666; GeneCards: RNASEH2C; OMA:RNASEH2C - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3P56, 3PUF
Gene location (Human)
Chr.	Chromosome 11 (human)
End	65,720,818 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	5,657,047 bp
RNA expression pattern
	Top expressed in
	pancreatic ductal cell; ; tendon of biceps brachii; ; apex of heart; ; right auricle of heart; ; 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
	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
	84153
	68209
	ENSG00000172922
	ENSMUSG00000024925
	Q8TDP1
	Q9CQ18
	NM_032193
	NM_026616
	NP_115569
	NP_080892
	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 2 3 GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024925 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: Ribonuclease H2 subunit C". Retrieved 2017-02-27.
↑ 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.

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 on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "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.

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RNASEH2C

Function

References

Further reading

External links