AutismKB 2.0

Annotation Details for ADAM30


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Basic Information Top
Gene Symbol:ADAM30 ( svph4 )
Gene Full Name: ADAM metallopeptidase domain 30
Band: 1p12
Quick LinksEntrez ID:11085; OMIM: 604779; Uniprot ID:ADA30_HUMAN; ENSEMBL ID: ENSG00000134249; HGNC ID: 208
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0031902IEA-late endosome membrane-
GO ID Evidence Qualifier GO_term References
GO:0004222IEA-metalloendopeptidase activity-
GO:0008237TAS-metallopeptidase activity10512762
GO:0008270TAS-zinc ion binding10512762
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0007339TAS-binding of sperm to zona pellucida-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1918328
  • 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