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)
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; ; 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172922 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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 expanding it.

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

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

[refGRCm38Ensembl-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.

[entrez-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.

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Function

References

Further reading

External links