Version: 8.0.0
Date: Tue Jan 28 2025
AQP4
Homo sapiensHGNC:637
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

AQP4

Species
Homo sapiens
Symbol
AQP4
Name
aquaporin 4
Synonyms
  • AQP-4
  • aquaporin 4 isoform delta4
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity and water channel activity. Involved in several processes, including cellular response to type II interferon; intracellular water homeostasis; and protein homotetramerization. Located in cytoplasm; external side of plasma membrane; and sarcolemma. Implicated in several diseases, including Meniere's disease; megalencephalic leukoencephalopathy with subcortical cysts; optic nerve disease (multiple); temporal lobe epilepsy; and transverse myelitis. Biomarker of several diseases, including Alpers-Huttenlocher syndrome; Meniere's disease; central pontine myelinolysis; cerebral amyloid angiopathy; and thymoma.
RGD Description
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR19139
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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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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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

          AQP4 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            AQP4 role
            AQP4 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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