Cep290 Gene Summary [Mouse]
Predicted to enable identical protein binding activity. Involved in cilium assembly; microtubule cytoskeleton organization; and protein transport. Acts upstream of or within several processes, including cilium assembly; photoreceptor cell maintenance; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is active in rod photoreceptor outer segment. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cep290 |
| Official Name | centrosomal protein 290 [Source:MGI Symbol;Acc:MGI:2384917] |
| Ensembl ID | ENSMUSG00000019971 |
| Bio databases IDs | |
| Aliases | centrosomal protein 290 |
| Synonyms | 3H11, 3H11Ag, b2b1454Clo, b2b1752Clo, BBS14, centrosomal protein 290, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, RGD1311640, SLSN6 |
| 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 Cep290 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
- chromosome segregation protein SMC, primarily archaeal type
- transcription regulator
- exonuclease SbcC
- Coiled-coil region of centrosome protein CE290
- rad50
- helix-rich Mycoplasma protein
- protein binding
- identical protein binding
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- Coiled-coil domain-containing protein 158
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Meckel syndrome type 4
- Bardet-Biedl syndrome type 14
- Joubert syndrome type 5
- Leber congenital amaurosis type 10
- hereditary disorder
- Leber congenital amaurosis type 1
- mental retardation
- Leber congenital amaurosis
- Joubert syndrome related disorder
role in cell
- assembly
- development
- organization
- maintenance
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
- ciliary transition zone
- centriolar satellite
- secretory granule lumen
- cell surface
- Extracellular Space
- pericentriolar regions
- Nucleus
- basal bodies
- centrosome
- centriole
- cytosol
- connecting cilia
- photoreceptor outer segments
- photoreceptor inner segments
- dendritic knobs
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cep290 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pronephros development
- positive regulation of intracellular protein transport
- cilium morphogenesis
- positive regulation of transcription, DNA-dependent
- kidney development
- hindbrain development
- otic vesicle formation
- protein transport
- camera-type eye development
- eye photoreceptor cell development
- regulation of establishment of protein localization
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- cilium basal body
- specific granule lumen
- centriolar satellite
- extracellular region
- nucleus
- centrosome
- centriole
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- microtubule minus-end binding