AutismKB 2.0

Annotation Details for ATP6V1G2


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Basic Information Top
Gene Symbol:ATP6V1G2 ( ATP6G,ATP6G2,NG38,VMA10 )
Gene Full Name: ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Band: 6p21.33
Quick LinksEntrez ID:534; OMIM: 606853; Uniprot ID:VATG2_HUMAN; ENSEMBL ID: ENSG00000213760; HGNC ID: 862
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0016471IEA-vacuolar proton-transporting V-type ATPase complex-
GO:0042470IEA-melanosome-
GO ID Evidence Qualifier GO_term References
GO:0016820IEA-hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances-
GO ID Evidence Qualifier GO_term References
GO:0008286TAS-insulin receptor signaling pathway-
GO:0015992IEA-proton transport-
GO:0016241NAS-regulation of macroautophagy22982048
GO:0033572TAS-transferrin transport-
GO:0034220TAS-ion transmembrane transport-
GO:0090383TAS-phagosome acidification-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ATP6V1G2ATP6V1E110701214667819 Two-hybrid
ATP6V1G2ATP6V1E110701714667819 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
ATP6V1G2rs2071594 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1913487
  • Data Attributes: HomoloGene calculated
No data
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


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