Version: 8.0.0
Date: Tue Jan 28 2025
Ctsd
Mus musculusMGI:88562
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ctsd

Species
Mus musculus
Symbol
Ctsd
Name
cathepsin D
Synonyms
  • CatD
  • CD
Biotype
protein coding gene
Automated Description
Enables aspartic-type endopeptidase activity. Involved in insulin catabolic process and insulin receptor recycling. Acts upstream of or within autophagosome assembly. Located in extracellular space and lysosome. Is active in endosome lumen. Is expressed in several structures, including central nervous system; extraembryonic component; eye; genitourinary system; and lung. Used to study neuronal ceroid lipofuscinosis 10. Human ortholog(s) of this gene implicated in Alzheimer's disease; breast cancer; and neuronal ceroid lipofuscinosis 10. Orthologous to human CTSD (cathepsin D).
MGI Description
PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at around age P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells. Near the terminal stage, affected mice have seizures, display retinal atrophy, and become blind. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR47966
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
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      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
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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

          Ctsd molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

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