AutismKB 2.0

Annotation Details for PLEKHA3


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Basic Information Top
Gene Symbol:PLEKHA3 ( FAPP1,FLJ20067 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Band: 2q31.2
Quick LinksEntrez ID:65977; OMIM: 607774; Uniprot ID:PKHA3_HUMAN; ENSEMBL ID: ENSG00000116095; HGNC ID: 14338
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005575ND-cellular_component-
GO:0005794IDA-Golgi apparatus-
GO ID Evidence Qualifier GO_term References
GO:0005543IDA-phospholipid binding11001876
GO:0005545IEA-1-phosphatidylinositol binding-
GO ID Evidence Qualifier GO_term References
GO:0006661TAS-phosphatidylinositol biosynthetic process-
GO:0008150ND-biological_process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1932515
  • 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


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