RUVBL2
RuvB-like 2
Also known as: ECP51, INO80J, Reptin52, RUVB2_HUMAN, RVB2, TIH2, TIP48, TIP49b
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y230
- Gene
- RUVBL2
- Ensembl
- ENSG00000183207
- Chromosome
- 19
- Canonical length
- 463 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Basal body,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
463 residues, UniProt reviewed canonical sequence.
>Q9Y230|RUVBL2
1 MATVTATTKV PEIRDVTRIE RIGAHSHIRG LGLDDALEPR QASQGMVGQL AARRAAGVVL
61 EMIREGKIAG RAVLIAGQPG TGKTAIAMGM AQALGPDTPF TAIAGSEIFS LEMSKTEALT
121 QAFRRSIGVR IKEETEIIEG EVVEIQIDRP ATGTGSKVGK LTLKTTEMET IYDLGTKMIE
181 SLTKDKVQAG DVITIDKATG KISKLGRSFT RARDYDAMGS QTKFVQCPDG ELQKRKEVVH
241 TVSLHEIDVI NSRTQGFLAL FSGDTGEIKS EVREQINAKV AEWREEGKAE IIPGVLFIDE
301 VHMLDIESFS FLNRALESDM APVLIMATNR GITRIRGTSY QSPHGIPIDL LDRLLIVSTT
361 PYSEKDTKQI LRIRCEEEDV EMSEDAYTVL TRIGLETSLR YAIQLITAAS LVCRKRKGTE
421 VQVDDIKRVY SLFLDESRST QYMKEYQDAF LFNELKGETM DTSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RUVBL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 232 nTPM
Expression across tissuesHPA
Tissue
- testis: 232 nTPM
- skeletal muscle: 85 nTPM
- fallopian tube: 68 nTPM
- choroid plexus: 62 nTPM
- esophagus: 57 nTPM
- heart muscle: 52 nTPM
Single-cell type
- late spermatids: 1,437 nCPM
- late primary spermatocytes: 918 nCPM
- early spermatids: 588 nCPM
- fallopian tube ciliated cells: 301 nCPM
- respiratory ciliated cells: 276 nCPM
- epididymal efferent duct ciliated cells: 202 nCPM
Immune cell
- myeloid DC: 66 nTPM
- total PBMC: 55 nTPM
- classical monocyte: 55 nTPM
- memory B-cell: 55 nTPM
- naive B-cell: 53 nTPM
- intermediate monocyte: 52 nTPM
Brain region
- white matter: 59 nTPM
- choroid plexus: 54 nTPM
- cerebral cortex: 49 nTPM
- midbrain: 48 nTPM
- hippocampal formation: 45 nTPM
- cerebellum: 45 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.11
- DepMap mean gene effect
- -1.87
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- box C/D snoRNP assembly
- cellular response to estradiol stimulus
- cellular response to UV
- chromatin remodeling
- DNA recombination
- DNA repair
- establishment of protein localization to chromatin
- negative regulation of canonical Wnt signaling pathway
- positive regulation of DNA repair
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of telomere maintenance in response to DNA damage
- positive regulation of transcription by RNA polymerase II
- protein folding
- protein stabilization
- regulation of apoptotic process
- regulation of cell cycle
- regulation of chromosome organization
- regulation of DNA repair
- regulation of DNA replication
- regulation of DNA strand elongation
- regulation of DNA-templated transcription
- regulation of double-strand break repair
- regulation of embryonic development
- regulation of transcription by RNA polymerase II
- telomerase RNA localization to Cajal body
- telomere maintenance
Molecular functions
- ADP binding
- ATP binding
- ATP hydrolysis activity
- ATPase binding
- beta-catenin binding
- chromatin DNA binding
- DNA helicase activity
- identical protein binding
- promoter-enhancer loop anchoring activity
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II core promoter sequence-specific DNA binding
- TBP-class protein binding
- TFIID-class transcription factor complex binding
- transcription corepressor activity
- unfolded protein binding
Cellular components
- centrosome
- ciliary basal body
- cytoplasm
- cytosol
- dynein axonemal particle
- euchromatin
- extracellular exosome
- Ino80 complex
- membrane
- MLL1 complex
- NuA4 histone acetyltransferase complex
- nuclear matrix
- nucleoplasm
- nucleosome
- nucleus
- protein folding chaperone complex
- R2TP complex
- ribonucleoprotein complex
- RPAP3/R2TP/prefoldin-like complex
- Swr1 complex
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RUVBL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RUVBL2 as an antibody target. Whether an autoantibody or antibody against RUVBL2 could matter depends on whether native RUVBL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RUVBL2 is annotated at the cell surface, where native RUVBL2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RUVBL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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