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FLASH GENE
Symbol ATP6V0D2 contributors: mct/npt/pgu - updated : 10-03-2010
HGNC name ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
HGNC id 18266
Location 8q21.3      Physical location : 87.111.138 - 87.166.454
Synonym name
  • ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2
  • vacuolar proton pump subunit d 2
  • V-ATPase subunit d 2
  • Synonym symbol(s) VMA6, ATP6D2, FLJ38708, v-ATPase
    EC.number 3.6.3.14
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 55.32 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2370 - 350 - 2009 19818731
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoclast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure a proteolipid hexameric ring that translocates protons when ATP is hydrolysed by the catalytic cytoplasmic sector (V1)
    mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Atp6v0d2
    Homologene
    FAMILY
  • V-ATPase V0D/AC39 subunit family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • essential for acidification of diverse intracellular compartments
  • required for urine acidification, and in osteoclasts, playing an important role in bone resorption by acid secretion across the ruffled border membrane
  • regulator of osteoclast fusion and bone formation
  • in the epididymis and vas deferens, the vacuolar H(+)ATPase (V-ATPase), located in the apical pole of narrow and clear cells, is required to establish an acidic luminal pH and also participates in the acidification of intracellular organelles
  • plays an important role in osteoclast maturation and bone formation
  • important subunit of the V-ATPase proton pump, which regulates bone homeostasis
  • having a dual function as a regulator of cell fusion in osteoclast differentiation and as an essential component of the osteoclast-specific proton pump that mediates extracellular acidification in bone resorption
  • required for amino acid signaling to MTOR and functions between amino acids and the nucleotide loading of the Rag GTPases
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text proton transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NFATC1 (NFATC1/ATP6V0D2 and dendritic cell-specific transmembrane protein signaling axis plays a key role in the osteoclast multinucleation process, which is essential for efficient bone resorption)
  • interacting with ADRM1, a new ATP6V0D2-interacting protein, playing an important role in osteoclast differentiation, and in particular the fusion of preosteoclasts
  • ATP6V0D2 interacts physically and also functionally with CACNA1E
  • cell & other
    REGULATION
    Other transactivated by MEF2A and MITF (MEF2A and MITF function cooperatively with NFATC1 to transactivate the ATP6V0D2 promoter during RANKL-induced osteoclastogenesis)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    during osteoclast differentiation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    inactivation of Atp6v0d2 in mice results in markedly increased bone mass due to defective osteoclasts and enhanced bone formation