Gene

CCDC8

Species
Homo sapiens
Symbol
CCDC8
Name
coiled-coil domain containing 8
Synonyms
  • 3M3
  • coiled-coil domain containing protein 8
Biotype
protein coding gene
Automated Description
Involved in microtubule cytoskeleton organization and regulation of mitotic nuclear division. Located in several cellular components, including centrosome; cytosol; and nucleoplasm. Part of 3M complex. Implicated in 3-M syndrome.
RGD Description
This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR47741
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

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
GRCh38
Viewer Help
46.4105M46.4110M46.4115M46.4120M46.4125M46.4130M46.4135M

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

Genetic Interactions