Version: 8.0.0
Date: Tue Jan 28 2025
Ccdc88c
Mus musculusMGI:1915589
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ccdc88c

Species
Mus musculus
Symbol
Ccdc88c
Name
coiled-coil domain containing 88C
Synonyms
  • 0610010D24Rik
  • AV000935
Biotype
protein coding gene
Automated Description
Enables PDZ domain binding activity; microtubule binding activity; and protein dimerization activity. Involved in protein destabilization. Acts upstream of or within several processes, including mucociliary clearance; negative regulation of microtubule depolymerization; and respiratory basal cell differentiation. Is active in apical junction complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and long bone. Human ortholog(s) of this gene implicated in hydrocephalus and spinocerebellar ataxia type 40. Orthologous to human CCDC88C (coiled-coil domain containing 88C).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit lack of coordinated cilia orientation and movement on the left ventricle wall. Homozygous knockout also leads to delayed wound healing and postnatal weight loss. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18947
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
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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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
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          Models

          Model name
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            100.88M100.90M100.92M100.94M100.96M100.98M

            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

            Ccdc88c molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
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              Genetic Interactions

              Ccdc88c role
              Ccdc88c genetic perturbation
              Interactor gene
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              Interactor role
              Interactor genetic perturbation
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              Phenotype or trait
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