AutismKB 2.0

Annotation Details for ATP6V0A2


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Basic Information Top
Gene Symbol:ATP6V0A2 ( A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a2
Band: 12q24.31
Quick LinksEntrez ID:23545; OMIM: 611716; Uniprot ID:VPP2_HUMAN; ENSEMBL ID: ENSG00000185344; HGNC ID: 18481
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000220IEA-vacuolar proton-transporting V-type ATPase, V0 domain-
GO:0001669IEA-acrosomal vesicle-
GO:0005765IDA-lysosomal membrane17897319
GO:0005886IBA-plasma membrane-
GO:0010008TAS-endosome membrane-
GO:0016021IEA-integral component of membrane-
GO:0016471IBA-vacuolar proton-transporting V-type ATPase complex-
GO:0030670TAS-phagocytic vesicle membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16415858
GO:0046961IBA-proton-transporting ATPase activity, rotational mechanism-
GO:0051117IBA-ATPase binding-
GO ID Evidence Qualifier GO_term References
GO:0006955TAS-immune response2247090
GO:0007035IBA-vacuolar acidification-
GO:0008286TAS-insulin receptor signaling pathway-
GO:0015986IBA-ATP synthesis coupled proton transport-
GO:0015991IEA-ATP hydrolysis coupled proton transport-
GO:0016241NAS-regulation of macroautophagy22982048
GO:0033572TAS-transferrin transport-
GO:0034220TAS-ion transmembrane transport-
GO:0070072IBA-vacuolar proton-transporting V-type ATPase complex assembly-
GO:0090383TAS-phagosome acidification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:104855
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018