Version: 8.0.0
Date: Tue Jan 28 2025
CYLD
Homo sapiensHGNC:2584
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CYLD

Species
Homo sapiens
Symbol
CYLD
Name
CYLD lysine 63 deubiquitinase
Synonyms
  • BRSS
  • CDMT
Biotype
protein coding gene
Automated Description
Enables several functions, including deubiquitinase activity; proline-rich region binding activity; and zinc ion binding activity. Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; protein linear deubiquitination; and regulation of signal transduction. Located in several cellular components, including cytoplasmic side of plasma membrane; microtubule cytoskeleton; and midbody. Implicated in Brooke-Spiegler syndrome.
RGD Description
This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11830
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
    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
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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

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

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