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FLASH GENE
Symbol ATP6V1C2 contributors: mct/npt - updated : 30-04-2010
HGNC name ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
HGNC id 18264
Location 2p25.1      Physical location : 10.861.774 - 10.925.228
Synonym name
  • V-ATPase C2 subunit
  • ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2
  • vacuolar proton pump subunit C 2
  • Synonym symbol(s) VMA5, ATP6C2
    EC.number 3.6.3.14
    DNA
    TYPE functioning gene
    STRUCTURE 63.45 kb     14 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
    14 - 3250 - 427 lung Smith (2002), Sun-Wada (2003)
  • variant C2-a, a lung-specific isoform containing a 46-amino acid insertion
  • localized specifically in lamellar bodies of type II alveolar cells
  • 13 - 3112 - 381 kidney Smith (2002), Sun-Wada (2003)
  • variant C2-b, a kidney-specific isoform without the insert
  • found in the plasma membranes of renal alpha and beta intercalated cells
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Atp6v1c2
    Homologene
    FAMILY
  • V-ATPase C subunit family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • play an important role in the intracellular localization and activity of H(+)-ATPases
  • 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 (Pietrement 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text proton transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS