AutismKB 2.0

Annotation Details for KCNQ2


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Basic Information Top
Gene Symbol:KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 2
Band: 20q13.33
Quick LinksEntrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886ISS-plasma membrane16525039
GO:0005886TAS-plasma membrane-
GO:0008076IEA-voltage-gated potassium channel complex-
GO:0016021IBA-integral component of membrane-
GO:0033268ISS-node of Ranvier16525039
GO:0043194ISS-axon initial segment16525039
GO ID Evidence Qualifier GO_term References
GO:0005249IEA-voltage-gated potassium channel activity-
GO:0005267TAS-potassium channel activity9430594
GO:0030506IPI-ankyrin binding16525039
GO ID Evidence Qualifier GO_term References
GO:0006813TAS-potassium ion transport9677360
GO:0007268TAS-chemical synaptic transmission9425895
GO:0007399TAS-nervous system development9425895
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0071805IEA-potassium ion transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KCNQ2CALM210998612032157 Two-hybrid
KCNQ2CALM210725612032157 Two-hybrid
KCNQ2CALM310998612032157 Two-hybrid
KCNQ2CALM310725912032157 Two-hybrid
KCNQ2KCNQ110998512524525 Affinity Capture-Western
KCNQ2KCNQ110998612524525 Affinity Capture-Western
KCNQ3KCNQ210998612890507 Affinity Capture-Western
KCNQ3KCNQ210998712890507 Affinity Capture-Western
ARIH2KCNQ211569416169070 Two-hybrid
ARIH2KCNQ210998616169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1309503
  • 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


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