AutismKB 2.0

Annotation Details for PCDH19


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Basic Information Top
Gene Symbol:PCDH19 ( DKFZp686P1843,EFMR,KIAA1313 )
Gene Full Name: protocadherin 19
Band: Xq22.1
Quick LinksEntrez ID:57526; OMIM: 300460; Uniprot ID:PCD19_HUMAN; ENSEMBL ID: ENSG00000165194; HGNC ID: 14270
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887IBA-integral component of plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0005509IEA-calcium ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007155IBA-cell adhesion-
GO:0007156IEA-homophilic cell adhesion via plasma membrane adhesion molecules-
GO:0007267IBA-cell-cell signaling-
GO:0007399IBA-nervous system development-
GO:0007420IEA-brain development-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2685563
  • Data Attributes: 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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