Version: 8.0.0
Date: Tue Jan 28 2025
Casq2
Mus musculusMGI:1309469
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Casq2

Species
Mus musculus
Symbol
Casq2
Name
calsequestrin 2
Synonyms
  • AA033488
  • AW146219
Biotype
protein coding gene
Automated Description
Enables calcium ion sequestering activity. Involved in several processes, including regulation of membrane repolarization; regulation of monoatomic cation transmembrane transport; and sarcomere organization. Acts upstream of or within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in Z disc and sarcoplasmic reticulum lumen. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; diaphragm; eye; male reproductive system; and skeletal muscle. Used to study catecholaminergic polymorphic ventricular tachycardia 2. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2).
MGI Description
PHENOTYPE: Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10033
No data available
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
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
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
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        Download all Alleles/Variants for all genes of the species

        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
            GRCm39
            Viewer Help
            102.00M102.01M102.02M102.03M102.04M102.05M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Casq2 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Casq2 role
              Casq2 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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