AutismKB 2.0

Annotation Details for ATP6V0E2


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Basic Information Top
Gene Symbol:ATP6V0E2 ( ATP6V0E2L,C7orf32 )
Gene Full Name: ATPase, H+ transporting V0 subunit e2
Band: 7q36.1
Quick LinksEntrez ID:155066; OMIM: 611019; Uniprot ID:VA0E2_HUMAN; ENSEMBL ID: ENSG00000171130; HGNC ID: 21723
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0010008TAS-endosome membrane-
GO:0016020IBA-membrane-
GO:0016021NAS-integral component of membrane17350184
GO:0030670TAS-phagocytic vesicle membrane-
GO:0033179IEA-proton-transporting V-type ATPase, V0 domain-
GO ID Evidence Qualifier GO_term References
GO:0042625ISS-ATPase coupled ion transmembrane transporter activity-
GO:0046961IBA-proton-transporting ATPase activity, rotational mechanism-
GO ID Evidence Qualifier GO_term References
GO:0007035ISS-vacuolar acidification-
GO:0008286TAS-insulin receptor signaling pathway-
GO:0015991IEA-ATP hydrolysis coupled proton transport-
GO:0016049IGI-cell growth17350184
GO:0016241NAS-regulation of macroautophagy22982048
GO:0033572TAS-transferrin transport-
GO:0034220TAS-ion transmembrane transport-
GO:0090383TAS-phagosome acidification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1923502
  • Data Attributes: HomoloGene calculated
No data
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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