RNASEH2B Gene Summary [Human]
RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | RNASEH2B |
| Official Name | ribonuclease H2 subunit B [Source:HGNC Symbol;Acc:HGNC:25671] |
| Ensembl ID | ENSG00000136104 |
| Bio databases IDs | |
| Aliases | ribonuclease H2 subunit B |
| Synonyms | 1110019N06RIK, 2610207P08Rik, AGS2, DLEU8, FLJ11712, ribonuclease H2 subunit B, ribonuclease H2, subunit B |
| 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 RNASEH2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNase_H2-B
- protein binding
- Ydr279p protein triple barrel domain
- Ydr279p protein family (RNase H2 complex component) wHTH domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- benign prostatic hyperplasia
- hereditary disorder
- Aicardi-Goutieres syndrome
- Aicardi-Goutieres syndrome 2
- major depression
- neuroinflammation
- rheumatoid arthritis
- growth failure
- ataxia
- pervasive developmental disorder
regulated by
role in cell
- phosphorylation in
- expression in
- proliferation
- upregulation in
- number
- cell death
- formation
- formation in
- abnormal morphology
- nucleotide excision repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNASEH2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fibroblast proliferation
- negative regulation of gene expression
- in utero embryonic development
- positive regulation of fibroblast proliferation
- ribonucleotide metabolic process
- gene expression
- regulation of DNA damage checkpoint
- mismatch repair
- regulation of G2/M transition of mitotic cell cycle
- RNA catabolic process
Cellular Component
Where in the cell the gene product is active
- ribonuclease H2 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding