RUVBL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RUVBL2 |
| Official Name | RuvB like AAA ATPase 2 [Source:HGNC Symbol;Acc:HGNC:10475] |
| Ensembl ID | ENSG00000183207 |
| Bio databases IDs | |
| Aliases | RuvB like AAA ATPase 2, reptin, INO80 complex subunit J |
| Synonyms | CGI-46, ECP-51, INO80J, mp47, p47, REPTIN, RUVB2, RuvB-like AAA ATPase 2, RuvB like DNA helicase, RVB2, TAP54-beta, TAP54-β, TIH2, TIP48, TIP49B |
| 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 RUVBL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TIP49 AAA-lid domain
- transcription regulator
- walker type B motif
- phosphorous-containing acid anhydride hydrolase
- nucleic acid binding
- ADP binding
- beta-catenin binding
- transcription co-repressor
- walker type A motif
- ATP binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- ATPase
- TATA-binding protein binding
- DNA binding
- DNA helicase
- TIP49 P-loop domain
- ATPase binding
- binding protein
- double-stranded DNA binding
- protein homodimerization
Pathways
Biological processes and signaling networks where the RUVBL2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cutaneous melanoma
- cutaneous melanoma cancer
- gout
- peripheral arterial disease
- plexiform neurofibroma
- infection by Influenza A virus subtype H1N1
- infection by severe acute respiratory syndrome coronavirus 2
role in cell
- migration
- replication in
- morphology
- expression in
- proliferation
- activation in
- binding in
- apoptosis
- colony formation
- formation
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
- interchromatin granule cluster fractions
- nuclear fraction
- organelle
- Cytoplasm
- basal bodies
- centrosome
- cytosol
- nucleosomes
- nucleoplasm
- chromatin
- detergent-soluble fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RUVBL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- regulation of DNA strand elongation
- regulation of chromosome organization
- regulation of DNA repair
- positive regulation of transcription from RNA polymerase II promoter
- cellular response to estradiol stimulus
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- regulation of double-strand break repair
- DNA duplex unwinding
- cellular response to UV
- regulation of cell cycle
- positive regulation of DNA repair
- regulation of embryonic development
- DNA recombination
- telomere maintenance
- regulation of transcription, DNA-dependent
- regulation of apoptotic process
- regulation of DNA replication
- protein folding
- regulation of transcription from RNA polymerase II promoter
- negative regulation of canonical Wnt receptor signaling pathway
- box C/D snoRNP assembly
- establishment of protein localization to chromatin
- protein stabilization
Cellular Component
Where in the cell the gene product is active
- NuA4 histone acetyltransferase complex
- Swr1 complex
- nucleosome
- nucleoplasm
- nucleus
- centrosome
- euchromatin
- extracellular vesicular exosome
- R2TP complex
- cytoplasm
- membrane
- nuclear matrix
- cytosol
- Ino80 complex
- MLL1 complex
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- chromatin DNA binding
- identical protein binding
- protein homodimerization activity
- RNA polymerase II core promoter sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- unfolded protein binding
- ADP binding
- beta-catenin binding
- ATP binding
- DNA helicase activity
- protein binding
- transcription corepressor activity
- TFIID-class transcription factor binding
- TBP-class protein binding
- ATPase binding