AutismKB 2.0

Annotation Details for PLEKHA2


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Basic Information Top
Gene Symbol:PLEKHA2 ( FLJ25921,TAPP2 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2
Band: 8p11.22
Quick LinksEntrez ID:59339; OMIM: 607773; Uniprot ID:PKHA2_HUMAN; ENSEMBL ID: ENSG00000169499; HGNC ID: 14336
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005737IDA-cytoplasm19786618
GO:0005886TAS-plasma membrane-
GO:0016020IDA-membrane19786618
GO:0043234IDA-protein complex19786618
GO ID Evidence Qualifier GO_term References
GO:0001968IMP-fibronectin binding19786618
GO:0005515IPI-protein binding19786618
GO:0030165IBA-PDZ domain binding-
GO:0035091IBA-phosphatidylinositol binding-
GO:0043236IMP-laminin binding19786618
GO ID Evidence Qualifier GO_term References
GO:0001954IMP-positive regulation of cell-matrix adhesion19786618
GO:0006661TAS-phosphatidylinositol biosynthetic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PLEKHA2MPDZ11430711802782 Affinity Capture-Western; Two-hybrid
PLEKHA2MPDZ12188111802782 Affinity Capture-Western; Two-hybrid
PLEKHA2PLEKHA112188011802782 Two-hybrid
PLEKHA2PLEKHA112188111802782 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1928144
  • 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


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