AutismKB 2.0

Annotation Details for SMPD4


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Basic Information Top
Gene Symbol:SMPD4 ( FLJ20297,FLJ20756,KIAA1418,NET13,NSMASE-3,NSMASE3 )
Gene Full Name: sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Band: 2q21.1
Quick LinksEntrez ID:55627; OMIM: 610457; Uniprot ID:NSMA3_HUMAN; ENSEMBL ID: ENSG00000136699; HGNC ID: 32949
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005783IDA-endoplasmic reticulum16517606
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005794IDA-Golgi apparatus16517606
GO:0005802IDA-trans-Golgi network16517606
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004767TAS-sphingomyelin phosphodiesterase activity-
GO:0046872IEA-metal ion binding-
GO:0050290IDA-sphingomyelin phosphodiesterase D activity16517606
GO ID Evidence Qualifier GO_term References
GO:0006685IDA-sphingomyelin catabolic process16517606
GO:0006687TAS-glycosphingolipid metabolic process-
GO:0046475IDA-glycerophospholipid catabolic process16517606
GO:0046513IDA-ceramide biosynthetic process16517606
GO:0071356IDA-cellular response to tumor necrosis factor16517606
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SMPD4BRF212057817353931 Affinity Capture-MS
SMPD4BRF212076617353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1924876
  • 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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