Version: 8.0.0
Date: Tue Jan 28 2025
CDK5RAP2
Homo sapiensHGNC:18672
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CDK5RAP2

Species
Homo sapiens
Symbol
CDK5RAP2
Name
CDK5 regulatory subunit associated protein 2
Synonyms
  • C48
  • CDK5 activator-binding protein C48
Biotype
protein coding gene
Automated Description
Enables several functions, including calmodulin binding activity; protein kinase binding activity; and tubulin binding activity. Involved in several processes, including microtubule cytoskeleton organization; positive regulation of DNA-templated transcription; and regulation of organelle organization. Located in several cellular components, including Golgi apparatus; microtubule cytoskeleton; and perinuclear region of cytoplasm. Implicated in Seckel syndrome; microcephaly; and primary autosomal recessive microcephaly 3.
RGD Description
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46930
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
None
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
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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
          GRCh38
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          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

          CDK5RAP2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            CDK5RAP2 role
            CDK5RAP2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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