CEP290 Gene: Centrosomal Protein 290
Key player in ciliopathies and retinal degeneration
Gene Information Card
| Symbol | CEP290 |
|---|---|
| Full Name | Centrosomal Protein 290 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.32 |
| NCBI Gene ID | 80184 ncbi.nlm.nih.gov/gene/80184 |
| Ensembl ID | ENSG00000198707 |
| UniProt ID | O15078 |
| OMIM ID | 610142 |
| HGNC ID | 29021 |
| Aliases | BBS14, CT87, JBTS5, MKS4, NPHP6, POC3, rd16, SLSN6, 3H11Ag |
Description
CEP290 encodes a large centrosomal protein essential for cilia assembly and function. It localizes to the centrosome and ciliary transition zone, where it regulates ciliary membrane composition and signaling. Mutations in CEP290 cause a spectrum of ciliopathies, including Joubert syndrome, Meckel syndrome, Bardet-Biedl syndrome, nephronophthisis, and Leber congenital amaurosis. The protein interacts with other ciliopathy-associated proteins such as CC2D2A and RPGRIP1L.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 5 (JBTS5) | Loss of CEP290 disrupts ciliary signaling, leading to cerebellar vermis hypoplasia and retinal dystrophy. | OMIM #610188 |
| Meckel syndrome 4 (MKS4) | Biallelic loss-of-function mutations impair ciliogenesis, causing neural tube defects, cystic kidneys, and polydactyly. | OMIM #611134 |
| Leber congenital amaurosis 10 (LCA10) | CEP290 mutations (e.g., c.2991+1655A>G) reduce ciliary protein levels, leading to severe early-onset retinal degeneration. | OMIM #611755 |
| Bardet-Biedl syndrome 14 (BBS14) | Defective CEP290 disrupts BBSome complex function, causing obesity, retinopathy, and renal anomalies. | OMIM #615991 |
| Nephronophthisis 6 (NPHP6) | CEP290 loss impairs renal cilia, leading to tubulointerstitial fibrosis and end-stage renal disease. | OMIM #610189 |
| Senior-Løken syndrome 6 (SLSN6) | Combined retinal and renal ciliary dysfunction due to CEP290 mutations. | OMIM #610189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 33.2 | High |
| Retina | 28.5 | High |
| Kidney | 18.1 | Medium |
| Brain | 12.4 | Medium |
| Lung | 8.7 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 22.1 | High expression relevant to retinal function |
| HEK293 (embryonic kidney) | 15.6 | Moderate expression |
| HeLa (cervical carcinoma) | 9.8 | Low expression |
| SH-SY5Y (neuroblastoma) | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2991+1655A>G (intronic) | Splice site mutation | Common in LCA10 (20% of cases) | Creates cryptic splice site, reduces functional CEP290 |
| p.Arg1926* | Nonsense | Rare | Premature truncation, loss of function |
| p.Gln1234* | Nonsense | Rare | Premature truncation, loss of function |
| c.5668G>T (p.Gly1890*) | Nonsense | Rare | Premature truncation, loss of function |
| c.4393C>T (p.Arg1465*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CEP290 mutations are loss-of-function, leading to truncated or unstable protein, impairing ciliogenesis and ciliary signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (cilium-dependent)
• BBSome complex assembly
• Ciliary transition zone function
• Photoreceptor cell maintenance
Protein Summary
CEP290 is a 290 kDa centrosomal protein that localizes to the ciliary transition zone and basal body. It contains multiple coiled-coil domains and a SMC (structural maintenance of chromosomes) domain. CEP290 interacts with other ciliopathy proteins (e.g., CC2D2A, RPGRIP1L, BBS4) to regulate ciliary membrane composition, protein trafficking, and signaling. Loss of CEP290 disrupts primary cilia function, leading to diverse ciliopathies affecting the retina, kidney, brain, and other organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP290 Knockout HEK293 Cell Line | EDJ-KQ9478 | Human | 80184 | Details Get a Quote |
| CEP290 Knockout A-549 Cell Line | EDJ-KQ34941 | Human | 80184 | Details Get a Quote |
| CEP290 Knockout HCT 116 Cell Line | EDJ-KQ36192 | Human | 80184 | Details Get a Quote |
| CEP290 Knockout HeLa Cell Line | EDJ-KQ36193 | Human | 80184 | Details Get a Quote |
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