Version: 8.1.0
Date: Fri Apr 18 2025
CLTC
Homo sapiensHGNC:2092
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CLTC

Species
Homo sapiens
Symbol
CLTC
Name
clathrin heavy chain
Synonyms
  • CHC
  • CHC17
Biotype
protein coding gene
Automated Description
Enables several functions, including clathrin light chain binding activity; disordered domain specific binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including amyloid-beta clearance by transcytosis; negative regulation of hyaluronan biosynthetic process; and receptor-mediated endocytosis. Acts upstream of or within mitotic spindle assembly. Located in several cellular components, including cytoplasmic vesicle; lysosome; and microtubule cytoskeleton. Part of Myb complex and clathrin complex. Implicated in autosomal dominant intellectual developmental disorder 56.
RGD Description
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10292
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

    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
          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

          CLTC molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection method
          Source
          Reference
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            Genetic Interactions

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