AutismKB 2.0

Annotation Details for PRRT2


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Basic Information Top
Gene Symbol:PRRT2 ( DKFZp547J199,FLJ25513,IFITMD1 )
Gene Full Name: proline-rich transmembrane protein 2
Band: 16p11.2
Quick LinksEntrez ID:112476; OMIM: NA; Uniprot ID:PRRT2_HUMAN; ENSEMBL ID: ENSG00000167371; HGNC ID: 30500
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0030054IEA-cell junction-
GO:0045202IEA-synapse-
No data
GO ID Evidence Qualifier GO_term References
GO:0009607IEA-response to biotic stimulus-
GO:0050884IMP-neuromuscular process controlling posture22101681
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PRRT2SNAP2511250016169070 Two-hybrid
PRRT2SNAP2512518816169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
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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