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FLASH GENE
Symbol ATP6V0D2 contributors: mct/npt/pgu - updated : 10-03-2020
HGNC name ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
HGNC id 18266
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
Urinarykidneytubuleconvoluted tubuleproximal tubulehighly Homo sapiens
 kidneytubulecollecting duct highly Homo sapiens
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     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • is also highly expressed in plasma membrane of specialized cells in kidney and other tissues
  • 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
  • plays a key role in enamel development, specifically lysosomal acidification
  • playing a pivotal role in acid-base homeostasis
  • is a key component of macrophage-specific autophagosome-lysosome fusion machinery maintaining macrophage organelle homeostasis and, in turn, limiting both inflammation and bacterial infection
  • 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
  • ATP6V0D2 and CLCN5 are functionally coupled during endosomal acidification and/or endocytosis
  • is dispensable for lysosome acidification, but promotes the completion of autophagy via promotion of autophagosome-lysosome fusion through its interaction with STX17 and VAMP8
  • ELAVL1 stabilizes ATP6V0D2 mRNA, which is required for the TLR3-mediated innate immune responses
  • cell & other
    REGULATION
    induced by insulin and activation of ATP6V0D2 and NFATC1 is involved in regulation of osteoclast differentiation and fusion through ERK1/2
    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