AutismKB 2.0

Annotation Details for ENPP3


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Basic Information Top
Gene Symbol:ENPP3 ( B10,CD203c,NPP3,PD-IBETA,PDNP3 )
Gene Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 3
Band: 6q23.2
Quick LinksEntrez ID:5169; OMIM: 602182; Uniprot ID:ENPP3_HUMAN; ENSEMBL ID: ENSG00000154269; HGNC ID: 3358
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887TAS-integral component of plasma membrane9344668
GO:0048471IDA-perinuclear region of cytoplasm10513816
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0003676IEA-nucleic acid binding-
GO:0004528IEA-phosphodiesterase I activity-
GO:0004551TAS-nucleotide diphosphatase activity9344668
GO:0005044IEA-scavenger receptor activity-
GO:0030247IEA-polysaccharide binding-
GO:0035529IEA-NADH pyrophosphatase activity-
GO:0046872IEA-metal ion binding-
GO:0047429IDA-nucleoside-triphosphate diphosphatase activity10513816
GO ID Evidence Qualifier GO_term References
GO:0006796IDA-phosphate-containing compound metabolic process10513816
GO:0006898IEA-receptor-mediated endocytosis-
GO:0006955IEA-immune response-
GO:0009143IDA-nucleoside triphosphate catabolic process10513816
GO:0030505IDANOTinorganic diphosphate transport10513816
GO:0090305IEA-nucleic acid phosphodiester bond hydrolysis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2143702
  • Data Attributes: MGI curated and HomoloGene calculated
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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