Gene

col-123

Species
Caenorhabditis elegans
Symbol
col-123
Name
COLlagen 123
Synonyms
  • CELE_W08D2.6
  • W08D2.6
Biotype
protein coding gene
Automated Description
Predicted to be a structural constituent of cuticle. Predicted to be part of collagen trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy; Ullrich congenital muscular dystrophy 1B; and congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) and COL6A2 (collagen type VI alpha 2 chain).
WB Description
col-123 is homologous to the human gene A TYPE IV COLLAGEN (COL6A1; OMIM:303631), which when mutated is sometimes associated with diffuse leiomyomatosis.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24023
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
None

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
WBcel235
Viewer Help
9.8220M9.8222M9.8224M9.8226M9.8228M9.8230M

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

Genetic Interactions