Version: 8.0.0
Date: Tue Jan 28 2025
KCNJ8
Homo sapiensHGNC:6269
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

KCNJ8

Species
Homo sapiens
Symbol
KCNJ8
Name
potassium inwardly rectifying channel subfamily J member 8
Synonyms
  • ATP-sensitive inward rectifier potassium channel 8
  • inward rectifier K(+) channel Kir6.1
Biotype
protein coding gene
Automated Description
Enables ATP-activated inward rectifier potassium channel activity; voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential; and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in membrane repolarization during ventricular cardiac muscle cell action potential and potassium ion import across plasma membrane. Predicted to be located in myofibril and sarcolemma. Predicted to be part of potassium ion-transporting ATPase complex. Predicted to be active in glutamatergic synapse and presynaptic active zone membrane.
RGD Description
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11767
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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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

          KCNJ8 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            KCNJ8 role
            KCNJ8 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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