Version: 8.0.0
Date: Tue Jan 28 2025
Dmpk
Mus musculusMGI:94906
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Dmpk

Species
Mus musculus
Symbol
Dmpk
Name
dystrophia myotonica-protein kinase
Synonyms
  • DM
  • Dm15
Biotype
protein coding gene
Automated Description
Predicted to enable ATP binding activity; myosin phosphatase regulator activity; and protein serine/threonine kinase activity. Involved in several processes, including regulation of myotube differentiation; regulation of skeletal muscle contraction by calcium ion signaling; and regulation of synapse structural plasticity. Acts upstream of or within regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction and regulation of sodium ion transport. Located in several cellular components, including bounding membrane of organelle; cytosol; and nuclear membrane. Is expressed in several structures, including branchial arch; hemolymphoid system gland; limb bud; musculature; and somite. Used to study myotonic dystrophy type 1. Human ortholog(s) of this gene implicated in myotonic dystrophy type 1. Orthologous to human DMPK (DM1 protein kinase).
MGI Description
PHENOTYPE: Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24356
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
      Has Phenotype 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
        Has Disease Annotations
        Has Phenotype Annotations
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            18.818M18.819M18.820M18.821M18.822M18.823M18.824M18.825M18.826M18.827M

            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

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

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