Version: 8.0.0
Date: Tue Jan 28 2025
Cd2ap
Mus musculusMGI:1330281
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cd2ap

Species
Mus musculus
Symbol
Cd2ap
Name
CD2-associated protein
Synonyms
  • AL024079
  • C78928
Biotype
protein coding gene
Automated Description
Enables actin filament binding activity; clathrin binding activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in synapse organization. Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and plasma membrane bounded cell projection organization. Located in several cellular components, including axon; cell-cell junction; and dendrite. Part of protein-containing complex. Is active in several cellular components, including actin cytoskeleton; nuclear envelope lumen; and slit diaphragm. Is expressed in several structures, including alimentary system; blastocyst; early embryo; genitourinary system; and lung. Used to study end stage renal disease and focal segmental glomerulosclerosis 3. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 3. Orthologous to human CD2AP (CD2 associated protein).
MGI Description
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14167
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
        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

          Cd2ap molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Cd2ap role
            Cd2ap genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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