Version: 8.0.0
Date: Tue Jan 28 2025
Epm2a
Mus musculusMGI:1341085
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Epm2a

Species
Mus musculus
Symbol
Epm2a
Name
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Synonyms
  • laforin
Biotype
protein coding gene
Automated Description
Enables several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity; phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen biosynthetic process. Acts upstream of or within several processes, including habituation; regulation of protein localization; and regulation of protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is active in cytosol. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).
MGI Description
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46864
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
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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
      Has Disease Annotations
      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
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          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

          Epm2a molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Epm2a role
            Epm2a genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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