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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RUVBL2 Gene

protein-coding   GIFtS: 64
GCID: GC19P049497

RuvB-like 2 (E. coli)

(Previous name: RuvB (E coli homolog)-like 2 )
 Explore 11 diseases affiliated with
RUVBL2 via our new
 Human Malady Compendium 
Biological research products
for RUVBL2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RuvB-Like 2 (E. Coli)1 2     TAP54-Beta1
TIP481 2 3 5     TIP49B2 3
INO80J1 2 3     INO80 Complex Subunit J2 3
ECP511 2 5     TIP60-Associated Protein 54-Beta2 3
RVB21 2     Reptin521
TIH21 2     Rvb21
RuvB (E Coli Homolog)-Like 21 2     REPTIN2
TIP49b1 3     Erythrocyte Cytosolic Protein, 51-KD2
Repressing Pontin 522 3     Reptin52 Protein2
48 KDa TATA Box-Binding Protein-Interacting Protein2 3     RuvB-Like 22
48 KDa TBP-Interacting Protein2 3     EC 3.6.4.123
51 KDa Erythrocyte Cytosolic Protein2 3     Reptin 523
ECP-512 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RUVBL2:
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)

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
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RUVBL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
49,497,156 bp from pter      End:
49,519,182 bp from pter
Size:
22,027 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 MLL, 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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y230

  • 4/28 DME Specific Peptides for RUVBL2 (Q9Y230) (see all 28)
     CPDGELQ  EVREQIN  IAGRAVL  SEIFSLE 

    RUVBL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006657.1  
    ENSEMBL proteins: 
     ENSP00000221413   ENSP00000413890  

    Human Recombinant Protein Products: 
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    Novus Biologicals RUVBL2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RUVBL2

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA18026119
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--
    GO:0016363nuclear matrix IEA--


    RUVBL2 for ontologies           About GeneDecksing



    RUVBL2 Antibody Products: 
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    Uscn ELISAs and CLIAs for RUVBL2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RUVBL2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR012340 NA-bd_OB-fold
     IPR027238 RuvB-like
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003678DNA helicase activity IDA10524211
    GO:0003684damaged DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity TAS10428817
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    RUVBL2 for ontologies           About GeneDecksing


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

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

    RUVBL2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription1.00
    2Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation1.00
    3C-MYC pathway
    C-MYC pathway1.00
    4ATF-2 transcription factor network
    ATF-2 transcription factor network1.00
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

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



    RUVBL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RUVBL2

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

    5/1169 Interacting proteins for RUVBL2 (Q9Y2301, 2, 3 ENSP000002214134) via UniProtKB, MINT, STRING, and/or I2D (see all 1169)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    HIST1H4DP628053I2D: score=3 
    HIST1H4EP628053I2D: score=3 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA10966108
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--


    RUVBL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RUVBL2

    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--
    Search CenterWatch for drugs/clinical trials and news about RUVBL2 / RUVB2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221413(uc010yab.2 uc002plr.1 uc002pls.1 uc010emn.1)
    ENST00000413176

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    Additional cDNA 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 

    24/28 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 

    24/37 AceView cDNA sequences (see all 37):

    BC008355 AL136743 AK027762 AK057498 CR602552 CR602932 CR590274 CR610456 
    AF401216 CR619641 NM_006666 CR533507 AB024301 CR625095 CR608075 AF155138 
    CR616279 CR621656 CR622065 CR614252 CR607824 CR607731 CR607216 CR622876 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RUVBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACACCTCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RUVBL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUVBL2

    SOURCE GeneReport for Unigene cluster: Hs.515846

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RUVBL2 gene from 9/39 species (see all 39)    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
    --
    94(a)
    1 ↔ 1
    6(79798024-79806283)
    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_079432.21  NP_524156.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T22D1.103
    ruvb-21
    Protein RUVB-21 58(a)3
    57.32(n)1
    58.97(a)1
      IV(6917469-6919586)3
    1774581  NM_068666.21  NP_501067.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RVB2(YPL235W)4
    RVB21
    Essential protein involved in transcription regulation; more4
    Rvb2p1
    59.38(n)1
    68.92(a)1
      16(103232-104647)4
    8558411, 4  NP_015089.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G676301 RuvB-like protein 2 66.59(n)
    76.39(a)
      836899  NM_126163.2  NP_201564.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g01869001 hypothetical protein 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)
    About This Section
    Paralogs for RUVBL2 gene
    1 SIMAP similar gene for RUVBL2 using alignment to 8 protein entries:     RUVB2_HUMAN (see all proteins):
    RUVBL1

    RUVBL2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RUVBL2
    PGOHUM00000242004


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/414 NCBI SNPs in RUVBL2 are shown (see all 414    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
    --49498995(+) CCCAGC/TACTTT 1 -- int10--------
    rs1845541971,2
    --49499008(+) GGGGTC/TGAGGC 1 -- int10--------
    rs1511675691,2
    --49499052(+) CCTGGC/TTAATA 1 -- int10--------
    rs1403088961,2
    --49499101(+) TAGCCA/GGGCGT 1 -- int10--------
    rs1439784671,2
    --49499330(+) AGACTA/GAGGTG 1 -- int10--------
    rs1171202641,2
    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 (49497156 - 49519182 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for RUVBL2
         3 CNVs: 67577 5109 32261
         1 Indel: 41731

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    (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.)
    About This Section

    RUVBL2 for disorders           About GeneDecksing

    OMIM gene information: 604788    OMIM disorders: --

    11 diseases for RUVBL2:    About MalaCards
    eaf    down syndrome    hepatocellular carcinoma    colon cancer
    gastric cancer    influenza    prostate cancer    prostatitis
    carcinoma    malaria    breast cancer

    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)
    About This Section

    PubMed articles for RUVBL2 gene, integrated from 9 sources (see all 134):
    (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. (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. (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. (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. (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. (2011)
    6. Tel2 structure and function in the Hsp90-dependent ma turation of mTOR and ATR complexes. (PubMed id 20801936)1, 2 Takai H....Pavletich N.P. (2010)
    7. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. (PubMed id 19299493)1, 2 de Planell-Saguer M....Mourelatos Z. (2009)
    8. Dodecameric structure and ATPase activity of the human TIP48/TIP49 complex. (PubMed id 17157868)1, 2 Puri T....Tsaneva I.R. (2007)
    9. A YY1-INO80 complex regulates genomic stability through homologous recombination-based repair. (PubMed id 18026119)1, 2 Wu S.... Shi Y. (2007)
    10. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (2005)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 10856 HGNC: 10475 AceView: RUVBL2 Ensembl:ENSG00000183207 euGenes: HUgn10856
    ECgene: RUVBL2 H-InvDB: RUVBL2

    (According to HUGE)
    About This Section
      --

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



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