CEP250 Gene - Centrosomal Protein 250
Essential component of the centrosome involved in ciliogenesis and cell division; mutations linked to Usher syndrome and cone-rod dystrophy.
Gene Information Card
| Symbol | CEP250 |
|---|---|
| Full Name | Centrosomal Protein 250 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 11190 ncbi.nlm.nih.gov/gene/11190 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q9BV73 |
| OMIM ID | 609987 |
| HGNC ID | 1859 |
| Aliases | C-Nap1, CEP250, CEP250_HUMAN, centrosomal Nek2-associated protein 1 |
Description
CEP250 encodes centrosomal protein 250 (C-Nap1), a core component of the centrosome that localizes to the proximal ends of centrioles. It is essential for centrosome cohesion during interphase and for ciliogenesis. CEP250 interacts with NEK2 and other centrosomal proteins to regulate centriole separation and primary cilium assembly. Mutations in CEP250 cause Usher syndrome type 1J and cone-rod dystrophy, highlighting its role in sensory cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 1J | Loss of CEP250 function disrupts centrosome cohesion and ciliary transport in photoreceptors and hair cells, leading to sensorineural hearing loss and retinitis pigmentosa. | ClinVar, OMIM |
| Cone-rod dystrophy | CEP250 mutations impair ciliary function in retinal photoreceptors, causing progressive vision loss. | ClinVar, OMIM |
| Retinitis pigmentosa | Secondary to Usher syndrome; CEP250 deficiency affects photoreceptor outer segment renewal via defective ciliogenesis. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 10.2 | Medium |
| Brain (cerebellum) | 8.9 | Medium |
| Lung | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression in cervical cancer cell line |
| HEK293 | 11.8 | Moderate expression in embryonic kidney cells |
| ARPE-19 | 9.4 | Retinal pigment epithelial cells; relevant to retinal disease |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.400C>T (p.Arg134*) | Nonsense | <0.01% | Loss of function; truncation of C-Nap1 protein; associated with Usher syndrome |
| c.1282G>A (p.Glu428Lys) | Missense | <0.01% | Likely pathogenic; disrupts centrosomal localization |
| c.2146_2147del (p.Leu716fs) | Frameshift | <0.01% | Loss of function; leads to premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg134*, p.Leu716fs) cause premature termination and loss of C-Nap1 function, leading to centrosome cohesion defects and ciliopathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported for CEP250.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu428Lys) may exert dominant-negative effects by interfering with wild-type CEP250 localization or interactions.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centriole |
| • ciliary basal body | • protein binding |
| • microtubule organizing center | • cell cycle |
| • ciliogenesis | • centrosome cycle |
Pathways
• Centrosome maturation and duplication
• Ciliary assembly and disassembly
• NEK2-mediated centrosome separation
Protein Summary
Centrosomal protein 250 (C-Nap1) is a 250 kDa coiled-coil protein that localizes to the proximal ends of centrioles. It maintains centrosome cohesion by tethering paired centrioles during interphase. CEP250 is phosphorylated by NEK2 at the G2/M transition, triggering centrosome disjunction. It also anchors microtubules and facilitates primary cilium formation. Loss of CEP250 leads to centrosome fragmentation and impaired ciliogenesis, underlying its role in Usher syndrome and retinal dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP250 Knockout HEK293 Cell Line | EDJ-KQ7324 | Human | 11190 | Details Get a Quote |
| CEP250 Knockout A-549 Cell Line | EDJ-KQ32398 | Human | 11190 | Details Get a Quote |
| CEP250 Knockout HCT 116 Cell Line | EDJ-KQ32399 | Human | 11190 | Details Get a Quote |
| CEP250 Knockout HeLa Cell Line | EDJ-KQ32400 | Human | 11190 | Details Get a Quote |
