RUVBL2
RuvB-like AAA ATPase 2, a key component of chromatin remodeling complexes
Gene Information Card
| Symbol | RUVBL2 |
|---|---|
| Full Name | RuvB-like AAA ATPase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 10856 ncbi.nlm.nih.gov/gene/10856 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9Y230 |
| OMIM ID | 604788 |
| HGNC ID | 10476 |
| Aliases | INO80J, TIP49b, TIP48, ECP51, CGI-46, RVB2 |
Description
RUVBL2 encodes a member of the RuvB family of AAA+ ATPases. The protein is a component of several chromatin remodeling complexes, including the INO80 complex, the SWR1 complex, and the TIP60 histone acetyltransferase complex. It plays a role in DNA repair, transcription regulation, and cell cycle control. RUVBL2 is essential for embryonic development and is implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or mutation may alter chromatin remodeling and DNA repair, promoting tumorigenesis. | COSMIC; multiple studies |
| Primary microcephaly | Biallelic loss-of-function variants impair neurodevelopment. | ClinVar; OMIM |
| Intellectual disability | Homozygous missense variants associated with neurodevelopmental delay. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.3 | High |
| Bone marrow | 18.7 | Medium |
| Lymph node | 16.2 | Medium |
| Brain | 12.5 | Medium |
| Liver | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.5 | Leukemia cell line |
| HeLa | 19.8 | Cervical carcinoma |
| A549 | 17.3 | Lung adenocarcinoma |
| HEK293 | 15.6 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.997C>T (p.Arg333Trp) | Missense | <0.01% | Unknown; reported in neurodevelopmental disorder |
| c.1462G>A (p.Glu488Lys) | Missense | <0.01% | Unknown; reported in microcephaly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; associated with microcephaly |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants (e.g., start loss) cause primary microcephaly and intellectual disability.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may act as a gain-of-function.
Dominant Negative (DN)
Not reported for RUVBL2.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • chromatin binding | • DNA helicase activity |
| • protein folding chaperone | • nucleosome remodeling |
| • DNA repair | • cell cycle |
Pathways
• INO80 chromatin remodeling
• SWR1 complex
• TIP60 histone acetyltransferase complex
• DNA double-strand break repair
• Telomere maintenance
Protein Summary
RUVBL2 is a 456-amino acid AAA+ ATPase that forms hexameric rings and interacts with RUVBL1. It is a core component of multiple chromatin remodeling complexes, facilitating ATP-dependent nucleosome sliding and histone exchange. The protein is involved in transcriptional activation, DNA damage response, and mitotic spindle assembly. Its ATPase activity is essential for complex integrity and function.
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