RNASEH2B ribonuclease H2 subunit B
Gene ID: 79621, updated on 10-Oct-2024Gene type: protein coding
Also known as: AGS2; DLEU8
- See all available tests in GTR for this gene
- Go to complete Gene record for RNASEH2B
- Go to Variation Viewer for RNASEH2B variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. GeneReviews: Not available | |
| Aicardi-Goutieres syndrome 2 | See labs |
Genomic context
- Location:
- 13q14.3
- Sequence:
- Chromosome: 13; NC_000013.11 (50909678..50970460)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RNASEH2B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RNASEH2B @ LOVD
- Variation ViewerRelated Variants
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