RUVBL2 RuvB like AAA ATPase 2
Gene ID: 10856, updated on 6-Oct-2024Gene type: protein coding
Also known as: RVB2; TIH2; ECP51; TIP48; CGI-46; ECP-51; INO80J; REPTIN; TIP49B; TAP54-beta
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- Go to complete Gene record for RUVBL2
- Go to Variation Viewer for RUVBL2 variants
Summary
This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.33
- Sequence:
- Chromosome: 19; NC_000019.10 (48993448..49015995)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RUVBL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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