Version: 8.0.0
Date: Tue Jan 28 2025
Cpap
Mus musculusMGI:2684927
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cpap

Species
Mus musculus
Symbol
Cpap
Name
centrosome assembly and centriole elongation protein
Synonyms
  • 4932437H03Rik
  • Cenpj
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including gamma-tubulin binding activity; identical protein binding activity; and transcription coactivator activity. Acts upstream of or within organelle assembly; positive regulation of non-motile cilium assembly; and smoothened signaling pathway. Located in centriole and ciliary basal body. Is expressed in several structures, including brain; foregut; sensory organ; submandibular gland primordium; and tooth. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 4; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 6. Orthologous to human CENPJ (centromere protein J).
MGI Description
PHENOTYPE: Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10331
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
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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

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

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