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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
  • TIP48 3 4 6
  • 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
  • ECP51 3 6
  • Erythrocyte Cytosolic Protein, 51-KD 3
  • RuvB-Like 2 (E. Coli) 2
  • Reptin52 Protein 3
  • RuvB-Like 2 3
  • EC 3.6.4.12 4
  • Reptin 52 4
  • EC 3.6.1 63
  • Reptin 2
  • CGI-46 3
  • REPTIN 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 Cell Cycle, Mitotic and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. 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

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

Genomic Location for RUVBL2 Gene

Start:
48,993,448 bp from pter
End:
49,015,995 bp from pter
Size:
22,548 bases
Orientation:
Plus strand

Genomic View for RUVBL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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 Lys9, Lys164, Lys177, Lys197, Lys223, Lys234, Lys269, Lys365, Lys368, Lys417, Lys427, Lys444, and Lys456
  • Modification sites at PhosphoSitePlus

Other Protein References for RUVBL2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUVBL2 (RUVBL2)

Domains for RUVBL2 Gene

Gene Families for RUVBL2 Gene

HGNC:
  • AATP :ATPases / AAA-type
  • INO80 :INO80 complex subunits

Protein Domains for RUVBL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y230

UniProtKB/Swiss-Prot:

RUVB2_HUMAN :
  • Q9Y230
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

Enzyme Numbers (IUBMB) for RUVBL2 Gene

Gene Ontology (GO) - Molecular Function for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 23637611
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 23637611
GO:0003678 DNA helicase activity IDA 10524211
GO:0003684 damaged DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity TAS 10428817
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

CRISPR Products

miRNA for RUVBL2 Gene

miRTarBase miRNAs that target RUVBL2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUVBL2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 5
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000812 Swr1 complex IDA 24463511
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA 10524211
GO:0005654 nucleoplasm TAS --
GO:0005719 nuclear euchromatin IDA 23637611
genes like me logo Genes that share ontologies with RUVBL2: view

Pathways for RUVBL2 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006260 DNA replication --
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006325 chromatin organization TAS --
genes like me logo Genes that share ontologies with RUVBL2: view

Compounds for RUVBL2 Gene

(3) HMDB Compounds for RUVBL2 Gene

Compound Synonyms Cas Number PubMed IDs
7,8-Dihydroneopterin
  • 2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine
1218-98-0
Dihydroneopterin phosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine phosphate
Not Available
Dihydroneopterin triphosphate
  • 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
20574-65-6
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUVBL2

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (5.4).

Integrated Proteomics: protein expression 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 expressions with RUVBL2: view

In Situ Assay Products

Orthologs for RUVBL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RUVBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUVBL2 35
  • 99.71 (n)
  • 100 (a)
RUVBL2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia RUVBL2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUVBL2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ruvbl2 35
  • 89.27 (n)
  • 99.57 (a)
lizard
(Anolis carolinensis)
Reptilia RUVBL2 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ruvbl2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ruvbl2 35
  • 77.51 (n)
  • 94.5 (a)
Str.1730 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7122 35
zebrafish
(Danio rerio)
Actinopterygii ruvbl2 35
  • 75.95 (n)
  • 88.34 (a)
ruvbl2 36
  • 88 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009746 35
  • 72.49 (n)
  • 78 (a)
fruit fly
(Drosophila melanogaster)
Insecta rept 35
  • 72.92 (n)
  • 78.15 (a)
rept 36
  • 74 (a)
OneToOne
rept 37
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea ruvb-2 35
  • 57.32 (n)
  • 58.97 (a)
ruvb-2 36
  • 59 (a)
OneToOne
T22D1.10 37
  • 58 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL142W 35
  • 69.15 (n)
  • 71.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RVB2 35
  • 59.38 (n)
  • 68.92 (a)
RVB2 36
  • 66 (a)
OneToOne
RVB2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15895g 35
  • 61.85 (n)
  • 70.63 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5682 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G67630 35
  • 66.59 (n)
  • 76.39 (a)
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
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 intestinalis)
Ascidiacea Cin.11911 35
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

Selected 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 MAF
rs753307 -- 49,015,227(+) GGTTC(C/T)GATTT intron-variant
rs753308 -- 49,015,318(+) TAGGT(A/G)TCAGT intron-variant
rs1142418 -- 49,004,046(+) tagag(G/T)tcaag intron-variant
rs1559154 -- 49,012,030(-) CCACA(C/T)CCCCC intron-variant
rs2287757 -- 49,014,740(-) GCCAC(A/C/T)GTCTG 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

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

No data available for UniProtKB/Swiss-Prot 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
  2. Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins. (PMID: 10524211) Salzer U. … Prohaska R. (Biochim. Biophys. Acta 1999) 3 4 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 4 23
  4. 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 4
  5. TIP49b, a regulator of activating transcription factor 2 response to stress and DNA damage. (PMID: 11713276) Cho S.-G. … Ronai Z. (Mol. Cell. Biol. 2001) 3 4

Products for RUVBL2 Gene

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