Version: 8.0.0
Date: Tue Jan 28 2025
CLCN4
Homo sapiensHGNC:2022
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CLCN4

Species
Homo sapiens
Symbol
CLCN4
Name
chloride voltage-gated channel 4
Synonyms
  • chloride channel 4
  • chloride channel protein 4
Biotype
protein coding gene
Automated Description
Enables antiporter activity and chloride channel activity. Acts upstream of or within chloride transport. Located in endoplasmic reticulum membrane; endosome; and lysosomal membrane. Implicated in Raynaud-Claes syndrome.
RGD Description
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45711
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
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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

          CLCN4 molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            CLCN4 role
            CLCN4 genetic perturbation
            Interactor gene
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            Interactor genetic perturbation
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            Phenotype or trait
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