Version: 8.0.0
Date: Tue Jan 28 2025
KCNQ2
Homo sapiensHGNC:6296
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

KCNQ2

Species
Homo sapiens
Symbol
KCNQ2
Name
potassium voltage-gated channel subfamily Q member 2
Synonyms
  • BFNC
  • BFNS1
Biotype
protein coding gene
Automated Description
Enables ankyrin binding activity; calmodulin binding activity; and voltage-gated potassium channel activity. Involved in potassium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated potassium channel complex. Implicated in benign neonatal seizures and developmental and epileptic encephalopathy 7.
RGD Description
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR47735
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          KCNQ2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            KCNQ2 role
            KCNQ2 genetic perturbation
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            Interactor role
            Interactor genetic perturbation
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            Phenotype or trait
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