AutismKB 2.0

Annotation Details for ASAH2


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Basic Information Top
Gene Symbol:ASAH2 ( BCDase,HNAC1,MGC129777,NCDase )
Gene Full Name: N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
Band: 10q11.23
Quick LinksEntrez ID:56624; OMIM: 611202; Uniprot ID:ASAH2_HUMAN; ENSEMBL ID: ENSG00000188611; HGNC ID: 18860
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739TAS-mitochondrion10781606
GO:0005886IEA-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0017040IEA-ceramidase activity-
GO ID Evidence Qualifier GO_term References
GO:0006672TAS-ceramide metabolic process10781606
GO:0006915IEA-apoptotic process-
GO:0007165TAS-signal transduction10781606
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1859310
  • Data Attributes: MGI curated and 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