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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]
RUVBL2 (RuvB Like AAA ATPase 2) is a Protein Coding gene. Diseases associated with RUVBL2 include Hemangioma Of Spleen and Hypotrichosis 7. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Chromatin organization. Gene Ontology (GO) annotations related to this gene include identical protein binding and unfolded protein binding. An important paralog of this gene is RUVBL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 23637611 |
GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA | 23637611 |
GO:0001094 | TFIID-class transcription factor complex binding | IEA | -- |
GO:0003678 | DNA helicase activity | IEA,IDA | 10524211 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000812 | Swr1 complex | IDA | 24463511 |
GO:0005622 | intracellular | IDA | -- |
GO:0005634 | nucleus | IEA,IDA | 10524211 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005719 | nuclear euchromatin | IDA | 23637611 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Chromosome Maintenance | ||
3 | Telomere C-strand (Lagging Strand) Synthesis | ||
4 | Chromatin Regulation / Acetylation | ||
5 | Cell Cycle, Mitotic |
.83
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000492 | box C/D snoRNP assembly | IBA | 21873635 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006310 | DNA recombination | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006338 | chromatin remodeling | IMP | 23637611 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Quercetin | Experimental, Investigational | Pharma | Target | Antitumor agent, Non-selective PI 3-kinase inhibitor | 54 | |
7,8-Dihydroneopterin | Experimental | Pharma | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
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Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
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Dihydroneopterin phosphate |
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dihydroneopterin triphosphate |
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20574-65-6 |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RUVBL2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RUVBL2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RUVBL2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RUVBL2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RUVBL2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ruvbl2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ruvbl2 30 17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RUVBL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ruvbl2 30 |
|
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Str.1730 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | ruvbl2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ruvbl2 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7122 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | rept 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009746 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | T22D1.10 32 |
|
|
|
ruvb-2 30 31 |
|
OneToOne | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL142W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15895g 30 |
|
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RVB2 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G67630 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5682 30 |
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Rice (Oryza sativa) |
Liliopsida | Os06g0186900 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.11685 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.3175 30 |
|
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06854 30 |
|
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rvb2 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11911 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709500 | Benign: not provided | 49,011,063(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
714008 | Benign: not provided | 49,015,102(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
736300 | Benign: not provided | 49,009,880(+) | C/T | SYNONYMOUS_VARIANT | |
781514 | Benign: not provided | 49,010,042(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3618n100 | CNV | gain | 25217958 |
esv22462 | CNV | gain | 19812545 |
esv2659705 | CNV | deletion | 23128226 |
esv2718697 | CNV | deletion | 23290073 |
esv3491 | CNV | loss | 18987735 |
nsv833857 | CNV | loss | 17160897 |
nsv833859 | CNV | loss | 17160897 |
nsv953598 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemangioma of spleen |
|
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hypotrichosis 7 |
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retinitis pigmentosa 50 |
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dyskeratosis congenita |
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