AutismKB 2.0

Annotation Details for KCNQ4


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Basic Information Top
Gene Symbol:KCNQ4 ( DFNA2,DFNA2A,KV7.4 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 4
Band: 1p34.2
Quick LinksEntrez ID:9132; OMIM: 603537; Uniprot ID:KCNQ4_HUMAN; ENSEMBL ID: ENSG00000117013; HGNC ID: 6298
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0008076IEA-voltage-gated potassium channel complex-
GO:0009925IEA-basal plasma membrane-
GO:0016021IBA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005249IBA-voltage-gated potassium channel activity-
GO:0005267TAS-potassium channel activity10025409
GO:0005515IPI-protein binding19687231
GO ID Evidence Qualifier GO_term References
GO:0006813TAS-potassium ion transport10025409
GO:0007605IEA-sensory perception of sound-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0042472IEA-inner ear morphogenesis-
GO:0071805IEA-potassium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
KCNQ4rs729589 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:1926803
  • 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