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Aliases for RUVBL2 Gene

Aliases for RUVBL2 Gene

  • RuvB Like AAA ATPase 2 2 3
  • INO80 Complex Subunit J 2 3 4
  • 48 KDa TATA Box-Binding Protein-Interacting Protein 3 4
  • 51 KDa Erythrocyte Cytosolic Protein 3 4
  • TIP60-Associated Protein 54-Beta 3 4
  • 48 KDa TBP-Interacting Protein 3 4
  • RuvB (E Coli Homolog)-Like 2 2 3
  • Repressing Pontin 52 3 4
  • TAP54-Beta 3 4
  • ECP-51 3 4
  • INO80J 3 4
  • TIP49B 3 4
  • TIP48 3 4
  • Erythrocyte Cytosolic Protein, 51-KD 3
  • RuvB-Like AAA ATPase 2 5
  • RuvB-Like 2 (E. Coli) 2
  • Reptin52 Protein 3
  • EC 3.6.4.12 4
  • Reptin 52 4
  • EC 3.6.1 63
  • Reptin 2
  • CGI-46 3
  • REPTIN 3
  • ECP51 3
  • RVB2 3
  • TIH2 3

External Ids for RUVBL2 Gene

Previous GeneCards Identifiers for RUVBL2 Gene

  • GC19P050155
  • GC19P049865
  • GC19P054173
  • GC19P054188
  • GC19P054007
  • GC19P049497
  • GC19P045873

Summaries for RUVBL2 Gene

Entrez Gene Summary for RUVBL2 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]

GeneCards Summary for RUVBL2 Gene

RUVBL2 (RuvB Like AAA ATPase 2) is a Protein Coding gene. Among its related pathways are Chromatin Regulation / Acetylation and Cell Cycle, Mitotic. GO annotations related to this gene include identical protein binding and unfolded protein binding.

UniProtKB/Swiss-Prot for RUVBL2 Gene

  • Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5 to 3) activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.

  • Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.

  • Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

  • Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2.

  • Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes.

Gene Wiki entry for RUVBL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUVBL2 Gene

Genomics for RUVBL2 Gene

Regulatory Elements for RUVBL2 Gene

Enhancers for RUVBL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RUVBL2 on UCSC Golden Path with GeneCards custom track

Promoters for RUVBL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RUVBL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RUVBL2 Gene

Chromosome:
19
Start:
48,993,353 bp from pter
End:
49,015,995 bp from pter
Size:
22,643 bases
Orientation:
Plus strand

Genomic View for RUVBL2 Gene

Genes around RUVBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUVBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUVBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUVBL2 Gene

Proteins for RUVBL2 Gene

  • Protein details for RUVBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y230-RUVB2_HUMAN
    Recommended name:
    RuvB-like 2
    Protein Accession:
    Q9Y230
    Secondary Accessions:
    • B3KQ59
    • E7ETE5
    • Q6FIB9
    • Q6PK27
    • Q9Y361

    Protein attributes for RUVBL2 Gene

    Size:
    463 amino acids
    Molecular mass:
    51157 Da
    Quaternary structure:
    • Forms homohexameric rings (Probable). Can form a dodecamer with RUVBL1 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known. Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interacts with the transcriptional activation domain of MYC. Interacts With ATF2. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL2 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with IGHMBP2. Interacts with TELO2. Interacts with HINT1. Component of a SWR1-like complex. Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with ITFG1 (PubMed:25437307).
    SequenceCaution:
    • Sequence=AAD34041.1; Type=Frameshift; Positions=401; Evidence={ECO:0000305}; Sequence=AAH08355.1; Type=Frameshift; Positions=191; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUVBL2 Gene

    Alternative splice isoforms for RUVBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUVBL2 Gene

Proteomics data for RUVBL2 Gene at MOPED

Post-translational modifications for RUVBL2 Gene

  • Ubiquitination at Lys 164, Lys 177, Lys 197, Lys 223, Lys 234, Lys 269, Lys 365, Lys 368, Lys 444, and Lys 456
  • Modification sites at PhosphoSitePlus

Domains & Families for RUVBL2 Gene

Gene Families for RUVBL2 Gene

Protein Domains for RUVBL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y230

UniProtKB/Swiss-Prot:

RUVB2_HUMAN :
  • The C-terminal domain is required for association with ATF2.
  • Belongs to the RuvB family.
Domain:
  • The C-terminal domain is required for association with ATF2.
Family:
  • Belongs to the RuvB family.
genes like me logo Genes that share domains with RUVBL2: view

Function for RUVBL2 Gene

Molecular function for RUVBL2 Gene

GENATLAS Biochemistry:
bacterial protein RuvB,E coli homolog-like 2,abundantly expressed in testis and thymus. Single stranded DNA-stimulated ATPase and ATP-dependent DNA helicase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5 to 3) activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.
UniProtKB/Swiss-Prot Function:
Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.
UniProtKB/Swiss-Prot Function:
Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
UniProtKB/Swiss-Prot Function:
Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2.
UniProtKB/Swiss-Prot Function:
Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes.

Enzyme Numbers (IUBMB) for RUVBL2 Gene

Gene Ontology (GO) - Molecular Function for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 23637611
GO:0003684 damaged DNA binding IEA --
GO:0005515 protein binding IEA,IPI 10966108
GO:0031490 chromatin DNA binding IDA 23637611
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with RUVBL2: view
genes like me logo Genes that share phenotypes with RUVBL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RUVBL2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUVBL2 Gene

Localization for RUVBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUVBL2 Gene

Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Note=Mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol. Although it is also present in the cytoplasm and associated with the cell membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RUVBL2 Gene COMPARTMENTS Subcellular localization image for RUVBL2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005719 nuclear euchromatin IDA 23637611
GO:0016363 nuclear matrix IEA --
GO:0035267 NuA4 histone acetyltransferase complex IDA 10966108
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with RUVBL2: view

Pathways & Interactions for RUVBL2 Gene

genes like me logo Genes that share pathways with RUVBL2: view

Gene Ontology (GO) - Biological Process for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035066 positive regulation of histone acetylation IMP 23637611
GO:0040008 regulation of growth IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IMP 23637611
GO:0071392 cellular response to estradiol stimulus IMP 23637611
genes like me logo Genes that share ontologies with RUVBL2: view

No data available for SIGNOR curated interactions for RUVBL2 Gene

Drugs & Compounds for RUVBL2 Gene

(2) Drugs for RUVBL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
7,8-Dihydroneopterin Experimental Pharma 0

(5) Additional Compounds for RUVBL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Dihydroneopterin phosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine phosphate
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 7,8-Dihydroneopterin 3'-triphosphate
  • 7,8-Dihydroneopterin triphosphate
20574-65-6
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with RUVBL2: view

Transcripts for RUVBL2 Gene

Unigene Clusters for RUVBL2 Gene

RuvB-like 2 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RUVBL2 Gene

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:

Relevant External Links for RUVBL2 Gene

GeneLoc Exon Structure for
RUVBL2
ECgene alternative splicing isoforms for
RUVBL2

Expression for RUVBL2 Gene

mRNA expression in normal human tissues for RUVBL2 Gene

mRNA differential expression in normal tissues according to GTEx for RUVBL2 Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for RUVBL2 Gene

This gene is overexpressed in Nasal epithelium (8.5) and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUVBL2 Gene



SOURCE GeneReport for Unigene cluster for RUVBL2 Gene Hs.515846

mRNA Expression by UniProt/SwissProt for RUVBL2 Gene

Q9Y230-RUVB2_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in testis and thymus.
genes like me logo Genes that share expression patterns with RUVBL2: view

Protein tissue co-expression partners for RUVBL2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RUVBL2 Gene

Orthologs for RUVBL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RUVBL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RUVBL2 35
  • 91.58 (n)
  • 99.57 (a)
RUVBL2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUVBL2 35
  • 90.57 (n)
  • 99.78 (a)
RUVBL2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ruvbl2 35
  • 89.06 (n)
  • 99.57 (a)
Ruvbl2 16
Ruvbl2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RUVBL2 35
  • 99.71 (n)
  • 100 (a)
RUVBL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ruvbl2 35
  • 89.27 (n)
  • 99.57 (a)
oppossum
(Monodelphis domestica)
Mammalia RUVBL2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUVBL2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUVBL2 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ruvbl2 35
  • 77.51 (n)
  • 94.5 (a)
Str.1730 35
African clawed frog
(Xenopus laevis)
Amphibia ruvbl2-prov 35
zebrafish
(Danio rerio)
Actinopterygii ruvbl2 35
  • 75.95 (n)
  • 88.34 (a)
ruvbl2 36
  • 88 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7122 35
fruit fly
(Drosophila melanogaster)
Insecta rept 37
  • 78 (a)
rept 35
  • 72.92 (n)
  • 78.15 (a)
rept 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009746 35
  • 72.49 (n)
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea T22D1.10 37
  • 58 (a)
ruvb-2 35
  • 57.32 (n)
  • 58.97 (a)
ruvb-2 36
  • 59 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL142W 35
  • 69.15 (n)
  • 71.33 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15895g 35
  • 61.85 (n)
  • 70.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RVB2 35
  • 59.38 (n)
  • 68.92 (a)
RVB2 36
  • 66 (a)
OneToOne
RVB2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G67630 35
  • 66.59 (n)
  • 76.39 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5682 35
barley
(Hordeum vulgare)
Liliopsida Hv.11685 35
rice
(Oryza sativa)
Liliopsida Os06g0186900 35
  • 70.57 (n)
  • 73.95 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3175 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11911 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06854 35
  • 67.96 (n)
  • 68.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rvb2 35
  • 61.47 (n)
  • 72.02 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 82 (a)
OneToOne
Species with no ortholog for RUVBL2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RUVBL2 Gene

ENSEMBL:
Gene Tree for RUVBL2 (if available)
TreeFam:
Gene Tree for RUVBL2 (if available)

Paralogs for RUVBL2 Gene

(1) SIMAP similar genes for RUVBL2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RUVBL2 Gene

genes like me logo Genes that share paralogs with RUVBL2: view

No data available for Paralogs for RUVBL2 Gene

Variants for RUVBL2 Gene

Sequence variations from dbSNP and Humsavar for RUVBL2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7256930 -- 49,001,586(+) AAGCA(C/T)TGGGG intron-variant
rs16981038 -- 49,011,018(+) ATCAA(A/G)TCAGA reference, synonymous-codon
rs71352714 -- 49,003,948(+) CCTTT(C/T)TACAA intron-variant
rs1142418 -- 49,004,046(+) tagag(G/T)tcaag intron-variant
rs72341497 -- 48,996,503(+) GTATC(-/TG)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUVBL2 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294
dgv3970n71 CNV Loss 21882294
nsv833859 CNV Loss 17160897
nsv912251 CNV Loss 21882294
esv2718697 CNV Deletion 23290073
esv2659705 CNV Deletion 23128226
esv3491 CNV Deletion 18987735
esv22462 CNV Gain 19812545

Variation tolerance for RUVBL2 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUVBL2 Gene

HapMap Linkage Disequilibrium report
RUVBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUVBL2 Gene

Disorders for RUVBL2 Gene

Relevant External Links for RUVBL2

Genetic Association Database (GAD)
RUVBL2
Human Genome Epidemiology (HuGE) Navigator
RUVBL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUVBL2

No disorders were found for RUVBL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUVBL2 Gene

Publications for RUVBL2 Gene

  1. TIP49b, a new RuvB-like DNA helicase, is included in a complex together with another RuvB-like DNA helicase, TIP49a. (PMID: 10428817) Kanemaki M. … Tamura T.-A. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay. (PMID: 20371770) Izumi N. … Ohno S. (Sci. Signal. 2010) 3 23
  3. A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex. (PMID: 16230350) Jin J. … Conaway J.W. (J. Biol. Chem. 2005) 3 23
  4. BAF53 forms distinct nuclear complexes and functions as a critical c- Myc-interacting nuclear cofactor for oncogenic transformation. (PMID: 11839798) Park J. … Cole M.D. (Mol. Cell. Biol. 2002) 3 23
  5. Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3. (PMID: 10998447) Parfait B. … Bieche I. (Ann. Genet. 2000) 2 3

Products for RUVBL2 Gene

Sources for RUVBL2 Gene

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