Cep120 Gene Summary [Mouse]
Involved in centrosome cycle; positive regulation of centrosome duplication; and positive regulation of cilium assembly. Acts upstream of or within several processes, including astral microtubule organization; nervous system development; and regulation of microtubule-based process. Located in centriole and centrosome. Is expressed in central nervous system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly. Orthologous to human CEP120 (centrosomal protein 120). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cep120 |
| Official Name | centrosomal protein 120 [Source:MGI Symbol;Acc:MGI:2147298] |
| Ensembl ID | ENSMUSG00000048799 |
| Bio databases IDs | |
| Aliases | centrosomal protein 120 |
| Synonyms | A230075C01, CCDC100, centrosomal protein 120, JBTS31, RGD1565619, SRTD13 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cep120 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Coiled-coil domain-containing protein 3
- Autophagy protein 16 (ATG16)
- Ciliary protein causing Leber congenital amaurosis disease
- Ezrin/radixin/moesin, alpha-helical domain
- coiled-coil domain
- protein binding
- Domain of unknown function (DUF4659)
- Mechanosensitive ion channel porin domain
- Trichohyalin-plectin-homology domain
- Proteobacterial lipase chaperone protein
- BRE1 E3 ubiquitin ligase
- Cep120 protein
- Intermediate filament protein
- Domain of unknown function (DUF4472)
- Centrosomal protein of 63 kDa
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 13 without polydactyly
- non-insulin-dependent diabetes mellitus
- short-rib thoracic dysplasia type 13
- Chuvash polycythemia
- Joubert syndrome type 31
- primary snoring
- plasma cell myeloma
- sleep apnea syndrome
- short-rib thoracic dysplasia type 13 with polydactyly
- renal fibrosis
role in cell
- proliferation
- number
- apoptosis
- overduplication
- length
- assembly
- duplication
- maturation
- overduplication in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- daughter centriole
- centrosome
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cep120 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- astral microtubule organization
- centrosome cycle
- positive regulation of centrosome duplication
- neurogenesis
- cerebral cortex development
- positive regulation of flagellum assembly
- interkinetic nuclear migration
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding