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RUVBL2 Gene

protein-coding   GIFtS: 68
GCID: GC19P049497

RuvB-Like AAA ATPase 2

(Previous names: RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RuvB-Like AAA ATPase 21 2     ECP512 5
INO80 Complex Subunit J1 2 3     reptin1
TIP482 3 5     RuvB-Like 2 (E. Coli)1
RuvB (E Coli Homolog)-Like 21 2     REPTIN2
Repressing Pontin 522 3     RVB22
48 KDa TATA Box-Binding Protein-Interacting Protein2 3     TIH22
48 KDa TBP-Interacting Protein2 3     Erythrocyte Cytosolic Protein, 51-KD2
51 KDa Erythrocyte Cytosolic Protein2 3     Reptin52 Protein2
ECP-512 3     RuvB-Like 22
INO80J2 3     EC 3.6.4.123
TAP54-beta2 3     TIP49b3
TIP49B2 3     Reptin 523
TIP60-Associated Protein 54-Beta2 3     EC 3.6.18

External Ids:    HGNC: 104751   Entrez Gene: 108562   Ensembl: ENSG000001832077   OMIM: 6047885   UniProtKB: Q9Y2303   

Export aliases for RUVBL2 gene to outside databases

Previous GC identifers: GC19P050155 GC19P049865 GC19P054173 GC19P054188 GC19P054007 GC19P045873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include unfolded protein binding and identical protein binding.

UniProtKB/Swiss-Prot: RUVB2_HUMAN, Q9Y230
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
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
Function: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional
regulation, DNA replication and probably DNA repair
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

Gene Wiki entry for RUVBL2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RUVBL2 gene promoter:
         TBP   STAT1   RFX1   GCNF   ATF-2   E47   CRE-BP1   GCNF-1   ARP-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RUVBL2 promoter sequence
   Search Chromatin IP Primers for RUVBL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RUVBL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

RUVBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUVBL2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049497:  view genomic region     (about GC identifiers)

Start:
49,496,705 bp from pter      End:
49,519,252 bp from pter
Size:
22,548 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RUVB2_HUMAN, Q9Y230 (See protein sequence)
Recommended Name: RuvB-like 2  
Size: 463 amino acids; 51157 Da
Subunit: 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
Sequence caution: Sequence=AAD34041.1; Type=Frameshift; Positions=401; Sequence=AAH08355.1; Type=Frameshift;
Positions=191;
3 PDB 3D structures from and Proteopedia for RUVBL2:
2CQA (3D)        2XSZ (3D)        3UK6 (3D)    
Secondary accessions: Q6FIB9 Q6PK27 Q9Y361

Explore the universe of human proteins at neXtProt for RUVBL2: NX_Q9Y230

Explore proteomics data for RUVBL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys164, Lys177, Lys197, Lys223, Lys234, Lys269, Lys365, Lys368, Lys417,
                                 Lys427, Lys444, Lys456
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RUVBL2 (Q9Y230) (see all 28)
     CPDGELQ  EVREQIN  IAGRAVL  SEIFSLE 


    See RUVBL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006657.1  
    ENSEMBL proteins: 
     ENSP00000473172   ENSP00000471524   ENSP00000469189   ENSP00000469760   ENSP00000471538  
     ENSP00000221413   ENSP00000469488   ENSP00000413890  
    Reactome Protein details: Q9Y230

    RUVBL2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RUVBL2

     
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    antibodies-online proteins for RUVBL2 (8 products) 

     
    antibodies-online peptides for RUVBL2

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    RUVBL2 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    INO80: INO80 complex subunits
    AATP: ATPases / AAA-type

    5 InterPro protein domains:
     IPR027238 RuvB-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR004504 DNA_repair_RadA
     IPR010339 TIP49_C

    Graphical View of Domain Structure for InterPro Entry Q9Y230

    ProtoNet protein and cluster: Q9Y230

    1 Blocks protein domain: IPB010339 TIP49

    UniProtKB/Swiss-Prot: RUVB2_HUMAN, Q9Y230
    Domain: The C-terminal domain is required for association with ATF2
    Similarity: Belongs to the RuvB family


    Find genes that share domains with RUVBL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RUVB2_HUMAN, Q9Y230
    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
    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
    Function: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional
    regulation, DNA replication and probably DNA repair
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for RUVBL2:
    bacterial protein RuvB,E coli homolog-like 2,abundantly expressed in testis and thymus. Single stranded
    DNA-stimulated ATPase and ATP-dependent DNA helicase

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003678DNA helicase activity IDA10524211
    GO:0003684damaged DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity TAS10428817
    GO:0005515protein binding IPI10966108
         
    Find genes that share ontologies with RUVBL2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RUVBL2:
     Decreased cell number and incr  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ruvbl2):
     hematopoietic system  immune system  integument  mortality/aging  pigmentation 

    Find genes that share phenotypes with RUVBL2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RUVBL2

    miRNA
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    miRTarBase miRNAs that target RUVBL2:
    hsa-mir-92a-3p (MIRT049723), hsa-mir-1229-3p (MIRT036346), hsa-mir-324-3p (MIRT042877)

    Block miRNA regulation of human, mouse, rat RUVBL2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate RUVBL2:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Addgene plasmids for RUVBL2 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RUVB2_HUMAN, Q9Y230: 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: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000812Swr1 complex IDA--
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with RUVBL2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RUVBL2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Telomere C-strand (Lagging Strand) Synthesis
    Extension of Telomeres0.79
    Telomere Extension By Telomerase0.00
    3Packaging Of Telomere Ends
    Telomere Maintenance0.64
    Chromosome Maintenance0.62
    4Cell Cycle, Mitotic
    Cell Cycle0.90
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation


    Find genes that share SuperPaths with RUVBL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RUVBL2
        Chromatin Regulation / Acetylation

    4 BioSystems Pathways for RUVBL2
        ATF-2 transcription factor network
    C-MYC pathway
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Validated targets of C-MYC transcriptional activation


    2 Reactome Pathways for RUVBL2
        HATs acetylate histones
    Telomere Extension By Telomerase


        Pathway & Disease-focused RT2 Profiler PCR Array including RUVBL2: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RUVBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RUVBL2 (Q9Y2301, 2, 3 ENSP000002214134) via UniProtKB, MINT, STRING, and/or I2D (see all 1339)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=3 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=3 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=3 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA10966108
    GO:0006260DNA replication ----
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006325chromatin organization TAS--

    Find genes that share ontologies with RUVBL2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RUVBL2 (RUVB2)

    3 HMDB Compounds for RUVBL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    7,8-Dihydroneopterin2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)1218-98-0--
    Dihydroneopterin phosphate2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine phosphate ----
    Dihydroneopterin triphosphate2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)20574-65-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RUVBL2 gene: 
    NM_006666.1  

    Unigene Cluster for RUVBL2:

    RuvB-like 2 (E. coli)
    Hs.515846  [show with all ESTs]
    Unigene Representative Sequence: AK057498
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595090 ENST00000601968 ENST00000596837 ENST00000595811 ENST00000594017
    ENST00000598768 ENST00000596247 ENST00000221413(uc010yab.2 uc002plr.1 uc002pls.1 uc010emn.1)
    ENST00000593570 ENST00000594338 ENST00000595002 ENST00000413176
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      QuantiTect SYBR Green Assays in human, mouse, rat RUVBL2
      QuantiFast Probe-based Assays in human, mouse, rat RUVBL2

    Additional mRNA sequence: 

    AB024301.1 AF124607.1 AF151804.1 AF155138.1 AF401216.1 AK027762.1 AK057498.1 AK074542.1 
    AK301344.1 AL136743.1 BC000428.2 BC004531.2 BC008355.1 CR533507.1 Y18417.1 

    Selected DOTS entries (see all 28):

    DT.97855485  DT.447869  DT.92458586  DT.97783745  DT.100876890  DT.97836652  DT.121475116  DT.100876901 
    DT.100685985  DT.121474970  DT.100770927  DT.95276006  DT.92458602  DT.92458603  DT.97759815  DT.100031559 
    DT.100769702  DT.100802852  DT.100807429  DT.121475192  DT.92458591  DT.95276005  DT.95276007  DT.97855487 

    Selected AceView cDNA sequences (see all 37):

    CR592274 CR608075 AF155138 CR622876 CR625095 CR602552 NM_006666 CR613453 
    CR607824 AL136743 CR596398 CR592825 CR619641 Y18417 AK074542 CR602932 
    AK057498 AF401216 CR590274 CR622065 CR592530 CR614252 CR610456 CR533507 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RUVBL2 (see all 8)    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for RUVBL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RUVBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACCTCCT
    RUVBL2 Expression
    About this image


    RUVBL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RUVBL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RUVBL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515846

    UniProtKB/Swiss-Prot: RUVB2_HUMAN, Q9Y230
    Tissue specificity: Ubiquitously expressed. Highly expressed in testis and thymus

        Pathway & Disease-focused RT2 Profiler PCR Array including RUVBL2: 
              Hypoxia Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RUVBL2 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ruvbl21 , 5 RuvB-like protein 21, 5 89.06(n)1
    99.57(a)1
      7 (29.30 cM)5
    201741  NM_011304.31  NP_035434.11 
     454218525 
    lizard
    (Anolis carolinensis)
    Reptilia RUVBL26
    RuvB-like AAA ATPase 2
    94(a)
    1 ↔ 1
    6(79796611-79806283)
    African clawed frog
    (Xenopus laevis)
    Amphibia ruvbl2-prov2 RuvB-like protein 2 77.88(n)    BC047966.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ruvbl22 RuvB-like 2 77.21(n)   317678  AY057075.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rept1 , 3 DNA helicase3
    reptin1
    78(a)3
    72.92(n)1
    78.15(a)1
      76A33
    400921  NM_001275111.11  NP_001262040.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T22D1.103
    ruvb-21
    ruvb-21 58(a)3
    57.32(n)1
    58.97(a)1
      IV(6917469-6919586)3
    1774581  NM_068666.31  NP_501067.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RVB2(YPL235W)4
    RVB21
    Essential protein involved in transcription regulation; component of chromatin remodeling complexes; required for assembly and function of the INO80 complex; also referred to as reptin; member of the RUVB-like protein family less4
    RVB21
    59.38(n)1
    68.92(a)1
      16(103232-104647)4
    8558411, 4  NP_015089.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G676301 AT5G67630 66.59(n)
    76.39(a)
      836899  NM_126163.2  NP_201564.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01869001 Os06g0186900 70.57(n)
    73.95(a)
      4340348  NM_001063548.1  NP_001057013.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RUVBL2 gene
    1 SIMAP similar gene for RUVBL2 using alignment to 8 protein entries:     RUVB2_HUMAN (see all proteins):
    RUVBL1

    Find genes that share paralogs with RUVBL2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RUVBL2
    PGOHUM00000242004


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RUVBL2 (see all 621)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116670891,2
    H--49498770(+) TTCCTC/TTGGGC 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1485481811,2
    --49498893(+) TTGAGC/TCCAGG 1 -- int10--------
    rs1819669791,2
    --49498962(+) ATTAGG/TCCGGG 1 -- int10--------
    rs1429481621,2
    C--49498995(+) CCCAGC/TACTTT 1 -- int10--------
    rs1845541971,2
    --49499008(+) GGGGTC/TGAGGC 1 -- int10--------
    rs1511675691,2
    --49499052(+) CCTGGC/TTAATA 1 -- int10--------
    rs1403088961,2
    C--49499101(+) TAGCCA/GGGCGT 1 -- int10--------
    rs1439784671,2
    C--49499330(+) AGACTA/GAGGTG 1 -- int10--------
    rs1171202641,2
    C,F--49499374(+) CAGCAG/ATCCAG 1 -- int11Minor allele frequency- A:0.15EA 120
    rs1464150471,2
    --49499417(+) AAAAAA/CACACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for RUVBL2 (49496705 - 49519252 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RUVBL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3491CNV Deletion18987735
    esv2718697CNV Deletion23290073
    esv2659705CNV Deletion23128226
    nsv833859CNV Loss17160897
    nsv912248CNV Loss21882294
    nsv833857CNV Loss17160897
    nsv912251CNV Loss21882294
    dgv3970n71CNV Loss21882294
    esv22462CNV Gain19812545
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RUVBL2
    DNA2.0 Custom Variant and Variant Library Synthesis for RUVBL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604788    OMIM disorders: --


    Find genes that share disorders with RUVBL2           About GenesLikeMe

    Genetic Association Database (GAD): RUVBL2
    Human Genome Epidemiology (HuGE) Navigator: RUVBL2 (3 documents)

    Export disorders for RUVBL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RUVBL2 gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with RUVBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TIP49b, a new RuvB-like DNA helicase, is included in a complex together with another RuvB-like DNA helicase, TIP49a. (PubMed id 10428817)1, 2, 3, 9 Kanemaki M.... Tamura T.-A. (J. Biol. Chem. 1999)
    2. Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3. (PubMed id 10998447)1, 2, 3 Parfait B.... Bieche I. (Ann. Genet. 2000)
    3. Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins. (PubMed id 10524211)1, 2, 9 Salzer U.... Prohaska R. (Biochim. Biophys. Acta 1999)
    4. A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex. (PubMed id 16230350)1, 2, 9 Jin J.... Conaway J.W. (J. Biol. Chem. 2005)
    5. Subunit organization of the human INO80 chromatin remodeling complex: An evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling. (PubMed id 21303910)1, 2 Chen L.... Conaway R.C. (J. Biol. Chem. 2011)
    6. Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes. (PubMed id 20801936)1, 2 Takai H.... Pavletich N.P. (Genes Dev. 2010)
    7. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    8. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    9. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. (PubMed id 19299493)1, 2 de Planell-Saguer M....Mourelatos Z. (Hum. Mol. Genet. 2009)
    10. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. (PubMed id 19403135)1, 4 Yamada Y....Kojima T. (Atherosclerosis 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10856 HGNC: 10475 AceView: RUVBL2 Ensembl:ENSG00000183207 euGenes: HUgn10856
    ECgene: RUVBL2 H-InvDB: RUVBL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RUVBL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RUVBL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RUVBL2 gene:
    Search GeneIP for patents involving RUVBL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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