Version: 8.1.0
Date: Fri Apr 18 2025
CHRNA4
Homo sapiensHGNC:1958
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CHRNA4

Species
Homo sapiens
Symbol
CHRNA4
Name
cholinergic receptor nicotinic alpha 4 subunit
Synonyms
  • acetylcholine receptor, nicotinic, alpha 4 (neuronal)
  • BFNC
Biotype
protein coding gene
Automated Description
Enables acetylcholine receptor activity and acetylcholine-gated monoatomic cation-selective channel activity. Involved in several processes, including behavioral response to nicotine; response to hypoxia; and synaptic signaling. Part of acetylcholine-gated channel complex; cation channel complex; and neurotransmitter receptor complex. Implicated in autosomal dominant nocturnal frontal lobe epilepsy 1 and nicotine dependence. Biomarker of Alzheimer's disease and Lewy body dementia.
RGD Description
This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
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

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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

          CHRNA4 molecule type
          Interactor gene
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          Interactor molecule type
          Detection method
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            Genetic Interactions

            CHRNA4 role
            CHRNA4 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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