Version: 8.0.0
Date: Tue Jan 28 2025
CHRNE
Homo sapiensHGNC:1966
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CHRNE

Species
Homo sapiens
Symbol
CHRNE
Name
cholinergic receptor nicotinic epsilon subunit
Synonyms
  • acetylcholine receptor subunit epsilon
  • acetylcholine receptor, nicotinic, epsilon (muscle)
Biotype
protein coding gene
Automated Description
Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to be involved in acetylcholine receptor signaling pathway and membrane depolarization. Predicted to act upstream of or within regulation of membrane potential. Is active in neuromuscular junction. Implicated in congenital myasthenic syndrome; congenital myasthenic syndrome 4A; congenital myasthenic syndrome 4B; and congenital myasthenic syndrome 4C.
RGD Description
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18945
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
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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
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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

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

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