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FLASH GENE
Symbol ATP6V0A2 contributors: mct - updated : 24-10-2012
HGNC name ATPase, H+ transporting, lysosomal V0 subunit a2
HGNC id 18481
Corresponding disease
CLAR2 cutis laxa, type 2 A
PSDB progeroid syndrome of De Barsy
Location 12q24.31      Physical location : 124.196.864 - 124.246.299
Synonym name
  • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2
  • vacuolar proton translocating ATPase 116 kDa subunit a
  • isoform 2
  • V-ATPase 116 kDa isoform a2
  • lysosomal H(+)-transporting ATPase V0 subunit a2
  • regeneration and tolerance factor
  • Synonym symbol(s) ATP6A2, ATP6N1DA2, TJ6, J6B7, STV1, TJ6M, TJ6S, VPH1, VPP2, a2, TJ6s, ATP6N1D, ARCL, WSS, voa2, a2V
    EC.number 3.6.3.6
    DNA
    TYPE functioning gene
    STRUCTURE 47.58 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    HM74a 12q24.31 G protein-coupled receptor HM74a HM74 12q24.31 G protein-coupled receptor HM74a GPR81 12q24.3 G protein-coupled receptor 81 DENR 12q24.31 density-regulated protein TSP-NY 12q24.31 testis-specific protein TSP-NY HIP1R 12q24 huntingtin interacting protein-1-related FLJ12750 12q24.31 hypothetical protein FLJ12750 ABCB9 12q24.31-q24.32 ATP-binding cassette, sub-family B (MDR/TAP), member 9 FLJ13491 12q24.31 hypothetical protein FLJ13491 ARL6IP4 12q24.31 ADP-ribosylation-like factor 6 interacting protein 4 PITPNM2 12q24.31 phosphatidylinositol transfer protein, membrane-associated 2 FLJ13769 12q24.31 hypothetical protein FLJ13769 MPHOSPH9 12q24.31 M-phase phosphoprotein 9 FLJ38663 12q24.31 hypothetical protein FLJ38663 CDK2AP1 12q24.31 CDK2-associated protein 1 SBNO1 12q24.31 sno, strawberry notch homolog 1 (Drosophila) LOC387893 12 similar to SET domain-containing protein 8 MGC7036 12q24.31 hypothetical protein MGC7036 RNP24 12q24.31 coated vesicle membrane protein DDX55 12q24.31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 EIF2B1 12q24.2-q24.31 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa GTF2H3 12q24.31 general transcription factor IIH, polypeptide 3, 34kDa FLJ12975 12q24.31 hypothetical protein FLJ12975 ATP6V0A2 12q24.31 ATPase, H+ transporting, lysosomal V0 subunit a isoform 2 DNAH10 13q14 dynein, axonemal, heavy polypeptide 10 FLJ22471 12q24.31 limkain beta 2 DKFZp761B128 12q24.31 hypothetical protein DKFZp761B128 LOC144347 12q24.31 hypothetical protein LOC144347 NCOR2 12q24.23-q24.31 nuclear receptor co-repressor 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 6550 - 856 - 2008 18157129
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Atp6n2
    homolog to yeast S.cerevisiae Vph1p
    Homologene
    FAMILY
  • V-ATPase 116 kDa subunit family
  • CATEGORY enzyme , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • having an important role in Golgi function
  • acting as an antagonist to the ATPase complex by disrupting the production of cellular ATP thereby decreasing the ability of umbilical vein endothelial cells to proliferate
  • ATP6V0A1, ATP6V0A2 cooperatively regulate the acidification and transmitter uptake/storage of dense-core vesicles, whereas they might not be as critical for exocytosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    text hydrogen ion transport, immune regulatory protein
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of the vacuolar ATPase
  • part of V-ATPase, an heteromultimeric enzyme composed of at least thirteen different subunits (has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between ATP6V0A2 and CYTH2 is a complex process involving various binding sites on both proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PSDB , CLAR2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    triggers the influx of macrophages into the preimplantation uterus during the onset of pregnancy and ultimately leads to successful pregnancy outcome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS