Version: 8.0.0
Date: Tue Jan 28 2025
Kbtbd13
Mus musculusMGI:1921742
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Kbtbd13

Species
Mus musculus
Symbol
Kbtbd13
Name
kelch repeat and BTB (POZ) domain containing 13
Synonyms
  • 5430433E21Rik
  • RIKEN cDNA 5430433E21 gene
Biotype
protein coding gene
Automated Description
Enables actin filament binding activity. Acts upstream of or within actin filament organization; regulation of the force of skeletal muscle contraction; and relaxation of skeletal muscle. Predicted to be located in Z disc. Used to study nemaline myopathy 6. Human ortholog(s) of this gene implicated in nemaline myopathy 6. Orthologous to human KBTBD13 (kelch repeat and BTB domain containing 13).
MGI Description
PHENOTYPE: Homozygosity for a specific point mutation increases muscle weight and slows muscle relaxation kinetics. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46375
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
    No data available

    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
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          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

          Kbtbd13 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Kbtbd13 role
            Kbtbd13 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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