Cep250 Gene Summary [Mouse]
Predicted to enable protein domain specific binding activity. Involved in detection of light stimulus involved in visual perception. Located in microtubule organizing center; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study retinitis pigmentosa. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Cep250 |
| Official Name | centrosomal protein 250 [Source:MGI Symbol;Acc:MGI:108084] |
| Ensembl ID | ENSMUSG00000038241 |
| Bio databases IDs | |
| Aliases | centrosomal protein 250 |
| Synonyms | B230210E21RIK, Centrosomal protein 2, centrosomal protein 250, CEP2, C-NAP1, CRDHL2, Inmp, RGD1562262 |
| 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 Cep250 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- Crescentin protein
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Synaptonemal complex protein 1 (SCP-1)
- rad50
- Myosin tail
- helix-rich Mycoplasma protein
- coiled-coil domain
- protein domain specific binding
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Ciliary rootlet component, centrosome cohesion
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- Trichohyalin-plectin-homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- Usher syndrome
- cone-rod dystrophy and hearing loss 2
- hearing loss
- retinal dystrophy
role in cell
- cleavage
- disruption
- assembly
- cohesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- basal bodies
- centrosome
- centriole
- cytosol
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cep250 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of centriole-centriole cohesion
- detection of light stimulus involved in visual perception
- cilium morphogenesis
- centriole-centriole cohesion
- protein localization
- protein localization to organelle
- protein localization to centrosome
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- centrosome
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- microtubule organizing center
- centriole
- cilium basal body
- cytosol
- macromolecular complex
- photoreceptor inner segment
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding