Gene

RNASEH2A

Species
Homo sapiens
Symbol
RNASEH2A
Name
ribonuclease H2 subunit A
Synonyms
  • AGS4
  • aicardi-Goutieres syndrome 4 protein
Biotype
protein coding gene
Automated Description
Enables RNA-DNA hybrid ribonuclease activity. Involved in RNA catabolic process. Acts upstream of or within mismatch repair. Located in cytosol and nucleoplasm. Part of ribonuclease H2 complex. Implicated in Aicardi-Goutieres syndrome.
RGD Description
The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10954
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
12.807M12.808M12.809M12.810M12.811M12.812M12.813M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions