Gene

CEP120

Species
Homo sapiens
Symbol
CEP120
Name
centrosomal protein 120
Synonyms
  • CCDC100
  • centrosomal protein 120kDa
Biotype
protein coding gene
Automated Description
Involved in positive regulation of centriole elongation and positive regulation of establishment of protein localization. Located in centrosome. Implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly.
RGD Description
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21574
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
123.35M123.36M123.37M123.38M123.39M123.40M123.41M123.42M

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