AutismKB 2.0

Annotation Details for POU3F4


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Basic Information Top
Gene Symbol:POU3F4 ( BRAIN-4,BRN4,DFN3,DFNX2,OTF9 )
Gene Full Name: POU class 3 homeobox 4
Band: Xq21.1
Quick LinksEntrez ID:5456; OMIM: 300039; Uniprot ID:PO3F4_HUMAN; ENSEMBL ID: ENSG00000196767; HGNC ID: 9217
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO ID Evidence Qualifier GO_term References
GO:0000977IEA-RNA polymerase II regulatory region sequence-specific DNA binding-
GO:0003680IEA-AT DNA binding-
GO:0003700IEA-transcription factor activity, sequence-specific DNA binding-
GO ID Evidence Qualifier GO_term References
GO:0006357IEA-regulation of transcription from RNA polymerase II promoter-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0007605IEA-sensory perception of sound-
GO:0021879IEA-forebrain neuron differentiation-
GO:0090103ISS-cochlea morphogenesis-
GO:2001054ISS-negative regulation of mesenchymal cell apoptotic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
POU3F4HNRNPU1094339105675 Far Western
POU3F4HNRNPU1114529105675 Far Western
POU3F4POU3F21114509105675 Far Western
POU3F4POU3F21114529105675 Far Western
POU3F4POU3F31114519105675 Far Western
POU3F4POU3F31114529105675 Far Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:101894
  • 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