AutismKB 2.0

Annotation Details for PNPLA8


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Basic Information Top
Gene Symbol:PNPLA8 ( IPLA2(GAMMA),IPLA2-2,IPLA2G )
Gene Full Name: patatin-like phospholipase domain containing 8
Band: 7q31.1
Quick LinksEntrez ID:50640; OMIM: 612123; Uniprot ID:PLPL8_HUMAN; ENSEMBL ID: ENSG00000135241; HGNC ID: 28900
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005622IDA-intracellular10744668
GO:0005777IDA-peroxisome15695510
GO:0005778IDA-peroxisomal membrane10744668
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0016020IDA-membrane10833412
GO:0016021IEA-integral component of membrane-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0004622IEA-lysophospholipase activity-
GO:0004623TAS-phospholipase A2 activity-
GO:0005524NAS-ATP binding10744668
GO:0047499IDA-calcium-independent phospholipase A2 activity10744668
GO ID Evidence Qualifier GO_term References
GO:0001516IDA-prostaglandin biosynthetic process15695510
GO:0006631IDA-fatty acid metabolic process10744668
GO:0008219IDA-cell death15695510
GO:0019369IDA-arachidonic acid metabolic process10833412
GO:0034638IDA-phosphatidylcholine catabolic process15695510
GO:0036151TAS-phosphatidylcholine acyl-chain remodeling-
GO:0036152TAS-phosphatidylethanolamine acyl-chain remodeling-
GO:0043651IDA-linoleic acid metabolic process15695510
GO:0046338IDA-phosphatidylethanolamine catabolic process15695510
GO:0050482IDA-arachidonic acid secretion10833412
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
PNPLA8rs40848 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1914702
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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