RNASEH2C Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | RNASEH2C |
| Official Name | ribonuclease H2 subunit C [Source:HGNC Symbol;Acc:HGNC:24116] |
| Ensembl ID | ENSG00000172922 |
| Bio databases IDs | |
| Aliases | ribonuclease H2 subunit C, Aicardi-Goutieres syndrome 3 |
| Synonyms | 1500026D16Rik, AGS3, AYP1, ribonuclease H2 subunit C, ribonuclease H2, subunit C |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RNASEH2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ribonuclease H2C
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNASEH2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mismatch repair
- RNA catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- ribonuclease H2 complex
Molecular Function
What the gene product does at the molecular level
- protein binding