Version: 8.0.0
Date: Tue Jan 28 2025
CEP19
Homo sapiensHGNC:28209
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CEP19

Species
Homo sapiens
Symbol
CEP19
Name
centrosomal protein 19
Synonyms
  • C3orf34
  • centrosomal protein 19kDa
Biotype
protein coding gene
Automated Description
Involved in microtubule anchoring at centrosome and vesicle targeting, trans-Golgi to periciliary membrane compartment. Located in microtubule cytoskeleton and nucleoplasm.
RGD Description
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR31539
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
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
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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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
            GRCh38
            Viewer Help
            196.707M196.708M196.709M196.710M196.711M196.712M

            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

            CEP19 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              CEP19 role
              CEP19 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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