AutismKB 2.0

Annotation Details for PDZD2


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Basic Information Top
Gene Symbol:PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 )
Gene Full Name: PDZ domain containing 2
Band: 5p13.3
Quick LinksEntrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576ISS-extracellular region12671685
GO:0005634ISS-nucleus12671685
GO:0005737IDA-cytoplasm11289102
GO:0005783ISS-endoplasmic reticulum12671685
GO:0005911ISS-cell-cell junction12671685
No data
GO ID Evidence Qualifier GO_term References
GO:0007155IEA-cell adhesion-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PDZD2CTNND210788210896674 Reconstituted Complex; Two-hybrid
PDZD2CTNND211667610896674 Reconstituted Complex; Two-hybrid
PDZD2PKP411407410896674 12370826 Affinity Capture-Western; Reconstituted Complex
PDZD2PKP411667610896674 12370826 Affinity Capture-Western; Reconstituted Complex
ERBB2IPPDZD212099712370826 Affinity Capture-Western
ERBB2IPPDZD211667612370826 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1922394
  • 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