Version: 8.0.0
Date: Tue Jan 28 2025
exc-5
Caenorhabditis elegansWB:WBGene00001366
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

exc-5

Species
Caenorhabditis elegans
Symbol
exc-5
Name
EXCretory canal abnormal 5
Synonyms
  • C33D9.1
  • Cefgd-1
Biotype
protein coding gene
Automated Description
Predicted to enable guanyl-nucleotide exchange factor activity. Involved in cell morphogenesis; epithelial cell development; and regulation of tube size. Located in several cellular components, including actin cytoskeleton; apical cortex; and cell body. Is expressed in excretory cell; hermaphrodite gonad; neurons; pharyngeal muscle cell; and rectal epithelium. Used to study Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4H; and X-linked Aarskog syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4H; X-linked Aarskog syndrome; and non-syndromic X-linked intellectual disability. Orthologous to several human genes including FGD1 (FYVE, RhoGEF and PH domain containing 1); FGD2 (FYVE, RhoGEF and PH domain containing 2); and FGD3 (FYVE, RhoGEF and PH domain containing 3).
WB Description
exc-5 encodes a protein orthologous to human FGD1 which is a guanine nucleotide exchange factor (GEF) for the Rho GTPase, Cdc-42; exc-5 is involved in the morphogenesis and structural organization of the excretory cell and is predominantly expressed in the excretory cell during development.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12673
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
None
Phenotype Term
Annotation details
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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
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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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        Models

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        Experimental condition
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          Sequence Feature Viewer

          Genome location
          Assembly version
          WBcel235
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          Data currently unavailable; sequence viewer under construction

          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

          exc-5 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            exc-5 role
            exc-5 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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