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FLASH GENE
Symbol RUVBL2 contributors: mct - updated : 11-01-2012
HGNC name RuvB-like 2 (E. coli)
HGNC id 10475
Location 19q13.33      Physical location : 49.497.155 - 49.519.182
Synonym name
  • RuvB (E coli homolog)-like 2
  • 48 kDa TATA box-binding protein-interacting protein
  • 51 kDa erythrocyte cytosolic protein
  • TIP60-associated protein 54-beta
  • reptin
  • Synonym symbol(s) TIP49B, ECP-51,TIP48, RVB2, CGI-46, TAP54-beta, ECP51, INO80J, REPTIN, TIH2
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 22.03 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D19S412 - D19S606 - MAP1A - FUT1 - CGB7 - CGB8 - CGB5 - CGB1 - CGB2 - CGB - LHB LHB - RUVBL2 - HRC - BCAT2 - CD37 - D19S907 - POLD1 - CD33 - KLK1 - FPR1 - RPS9 - D19S571 - D19S927 - D19S418 - qter
    Authors Gene Map (98), Parfait (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 1488 - 463 - 2000 10998447
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart    
    Reproductivemale systemtestis  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ATPase and DNA helicase motifs
  • Walker A and B motifs
  • two ATP binding motifs of Reptin play a role in regulating the stability of the AGR2-RUVBL2 complex
  • HOMOLOGY
    interspecies homolog to E.coli RuvB,bacterial protein
    ortholog to yeast Rvb2p
    Homologene
    FAMILY
  • large AAA+ (adenosine triphosphatase associated with diverse cellular activities) superfamily of conserved proteins
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,matrix attachement regions
    text
  • nuclear matrix
  • highly expressed and is mainly distributed in the cytosol (
  • basic FUNCTION
  • single stranded DNA-stimulated ATPase and ATP-dependent DNA helicase
  • may play an important role in insulin-stimulated SLC2A4 translocation through its interaction with TBC1D4
  • regulates telomerase at two different levels
  • essential eukaryotic AAA+ ATPase involved in a variety of cellular processes, such as chromatin remodeling during double-strand break repair, transcriptional regulation, control of cell proliferation and small nucleolar RNA biogenesis
  • chromatin-remodeling factor, methylated at lysine 67 in hypoxic conditions by the methyltransferase EHMT2
  • may also function as a novel modulator of apoptosis pathway with PIH1D1
  • implicated in ETS2 mediated regulation of TERT in colon cancer which has functional and clinical consequences
  • RUVBL1/RUVBL2 complex regulates PIKK-mediated stress responses through physical interactions with PIKKs (phosphatidylinositol 3-kinase-related protein kinase) and by controlling PIKK mRNA levelsv
  • RUVBL1 and RUVBL2, also known as Pontin and Reptin, are AAA+ proteins essential in small nucleolar ribonucloprotein biogenesis, chromatin remodelling, nonsense-mediated messenger RNA decay and telomerase assembly
  • RUVBL1, RUVBL2 act as molecular adaptors that can substitute for one another to facilitate the optimal assembly, heat stability, and function of the TIP60 complex
  • RUVBL1, RUVBL2 are required for efficient transcription of type I interferon-stimulated genes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • chaperon complex R2TP composed of RUVBL1, RUVBL2, RPAP3, and PIH1D1 and prefoldin-like complex (including WDR92) in mammalian cells
  • INTERACTION
    DNA
    RNA
    small molecule
    ATP
    protein
  • RUVBL2, RUVBL1 efficiently bridge interactions between the core box C/D proteins NOP56 or NOP58 and NHP2L1
  • RUVBL1 and RUVBL2 associate with each phosphatidylinositol 3-kinase-related protein kinase family member
  • interaction with TBC1D4
  • RUVBL1 binding beta catenin in the region of Armadillo repeats, binding to the TATA box binding protein
  • AGR2-interacting protein
  • transcriptional regulator of TERT
  • RPAP3, RUVBL1, RUVBL2,and PIH1D1 were identified as WDR92 binding proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer (
    tumoral     --over  
    in hepatocellular carcinoma (its overexpression enhances tumorigenicity, and it is required for tumor cell viability)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    may be a putative therapeutic target
    ANIMAL & CELL MODELS