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    RUVBL2 RuvB like AAA ATPase 2 [ Homo sapiens (human) ]

    Gene ID: 10856, updated on 4-Nov-2018

    Summary

    Official Symbol
    RUVBL2provided by HGNC
    Official Full Name
    RuvB like AAA ATPase 2provided by HGNC
    Primary source
    HGNC:HGNC:10475
    See related
    Ensembl:ENSG00000183207 MIM:604788; Vega:OTTHUMG00000183333
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RVB2; TIH2; ECP51; TIP48; CGI-46; ECP-51; INO80J; REPTIN; TIP49B; TAP54-beta
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 64.1), colon (RPKM 12.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See RUVBL2 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (48993448..49015995)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49496738..49519183)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ferritin light chain Neighboring gene glycogen synthase 1 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene microRNA 6798 Neighboring gene uncharacterized LOC101059948 Neighboring gene luteinizing hormone beta polypeptide Neighboring gene chorionic gonadotropin subunit beta 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    shRNA downregulation of RUVBL2 reduces the the infectivity of HIV-1 produced by HEK293T cells; RUVBL2 enhances HIV-1 infectivity PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with RUVBL2 PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 Env antagonizes RUVBL2 by competitive interaction with HIV-1 MA PubMed
    Pr55(Gag) gag HIV-1 Gag expression is inhibited by RUVBL2 in a HIV-1 MA-dependent manner PubMed
    Tat tat The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    matrix gag HIV-1 MA interacts with RUVBL2 (RVB2) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent 5'-3' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II distal enhancer sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    TBP-class protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    TFIID-class transcription factor complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    box C/D snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to estradiol stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H2A acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of estrogen receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of nucleic acid-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcriptional activation by promoter-enhancer looping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Ino80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Ino80 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    R2TP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    R2TP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Swr1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    intracellular IDA
    Inferred from Direct Assay
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear euchromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ruvB-like 2
    Names
    48 kDa TATA box-binding protein-interacting protein
    48 kDa TBP-interacting protein
    51 kDa erythrocyte cytosolic protein
    INO80 complex subunit J
    RuvB (E coli homolog)-like 2
    TIP60-associated protein 54-beta
    erythrocyte cytosolic protein, 51-KD
    repressing pontin 52
    reptin52 protein
    NP_001308119.1
    NP_001308120.1
    NP_006657.1
    XP_011524632.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033041.1 RefSeqGene

      Range
      4550..27097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321190.1NP_001308119.1  ruvB-like 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008687, AK027762
      UniProtKB/TrEMBL
      B3KNL2
      Conserved Domains (3) summary
      cd00009
      Location:235328
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      pfam06068
      Location:7378
      TIP49; TIP49 C-terminus
      cl21455
      Location:3989
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001321191.1NP_001308120.1  ruvB-like 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008687
      UniProtKB/Swiss-Prot
      Q9Y230
      Related
      ENSP00000471524.1, OTTHUMP00000271479, ENST00000601968.5, OTTHUMT00000466236
      Conserved Domains (1) summary
      pfam06068
      Location:1367
      TIP49; TIP49 C-terminus
    3. NM_006666.2NP_006657.1  ruvB-like 2 isoform 1

      See identical proteins and their annotated locations for NP_006657.1

      Status: REVIEWED

      Source sequence(s)
      AC008687, BC004531
      Consensus CDS
      CCDS42588.1
      UniProtKB/Swiss-Prot
      Q9Y230
      Related
      ENSP00000473172.1, OTTHUMP00000271478, ENST00000595090.5, OTTHUMT00000466235
      Conserved Domains (1) summary
      pfam06068
      Location:21412
      TIP49; TIP49 C-terminus

    RNA

    1. NR_135578.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008687, BC008355

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      48993448..49015995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526330.1XP_011524632.1  ruvB-like 2 isoform X1

      See identical proteins and their annotated locations for XP_011524632.1

      UniProtKB/Swiss-Prot
      Q9Y230
      Related
      ENSP00000486242.1, ENST00000627972.1
      Conserved Domains (1) summary
      pfam06068
      Location:1367
      TIP49; TIP49 C-terminus
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