Gene · 80184
CEP290: centrosomal protein 290
12 sourcesgene-search-2026-11-11-0.2.0
Cite this record
ConductScience Library. CEP290: centrosomal protein 290. Genes, record 80184. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/80184
On this page
Gene
Proteins1
Reviewed human proteins whose Swiss-Prot entry states the gene.
| UniProt entry | Protein | Length | Structures | Gene stated in |
|---|---|---|---|---|
| O15078 | Centrosomal protein of 290 kDa | 2,479 | 0 | Ensembl, GeneID, HGNC |
Source UniProt
Patents67
Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.
| Publication | Published | SEQ ID NO | Protein | Source |
|---|---|---|---|---|
| JP 2026515744 A | 2026-05-19 | 217 | O15078 | Espacenet |
| EP 4704920 A1 | 2026-03-11 | 203 | O15078 | Espacenet |
| JP 2026004568 A | 2026-01-14 | 40887 | O15078 | Espacenet |
| EP 4667578 A2 | 2025-12-24 | 62 | O15078 | Espacenet |
| EP 4650780 A2 | 2025-11-19 | 16533 | O15078 | Espacenet |
| EP 4641201 A2 | 2025-10-29 | 20363 | O15078 | Espacenet |
| US 12454702 B2 | 2025-10-28 | 1 | O15078 | Espacenet |
| JP 2025131621 A | 2025-09-09 | 62 | O15078 | Espacenet |
| JP 2025517969 A | 2025-06-12 | 20363 | O15078 | Espacenet |
| JP 2025517970 A | 2025-06-12 | 16533 | O15078 | Espacenet |
1 to 10 of 67
See all 67 patentsDrugs1
Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.
| Drug | ChEMBL ID | Mechanism | Action |
|---|---|---|---|
| SEPOFARSEN | CHEMBL4594497 | CEP290 mRNA positive modulator | POSITIVE MODULATOR |
Source ChEMBL
Trials5
Trials of those drugs. A trial joins the gene only through a drug that acts on it.
| Trial | Drug | Phase | Results first posted | Source |
|---|---|---|---|---|
| NCT06891443 | SEPOFARSEN | PHASE3 | ClinicalTrials.gov | |
| NCT04855045 | SEPOFARSEN | PHASE2/PHASE3 | ClinicalTrials.gov | |
| NCT03913143 | SEPOFARSEN | PHASE2/PHASE3 | ClinicalTrials.gov | |
| NCT03913130 | SEPOFARSEN | PHASE1/PHASE2 | 2023-01-04 | ClinicalTrials.gov |
| NCT03140969 | SEPOFARSEN | PHASE1/PHASE2 | 2022-12-27 | ClinicalTrials.gov |
NIH grants990
NIH grants whose papers are about the gene, through NIH's grant-paper links.
| Grant | Title | CEP290 papers | Newest fiscal year |
|---|---|---|---|
| R01EY018571 | Genetics of early onset retinal diseases | 17 | 2025 |
| R01EY018213 | Defining Barriers to Gene Therapy | 14 | 2025 |
| R01EY022356 | Molecular Basis of Human Visual System Disorders | 13 | 2025 |
| P30CA013696 | Cancer Center Support Grant | 11 | 2025 |
| ZIAHG000215 | Human Biochemical Genetics | 10 | 2025 |
| R01EY024698 | Gene Editing and Silencing in Phototransduction | 9 | 2025 |
| ZIAEY000546 | Mechanisms, modeling and therapies of retinal and macular neurodegeneration | 9 | 2025 |
| P30EY001583 | P30 Core Grant For Vision Research | 8 | 2025 |
| R01GM060992 | Intraflagellar Transport Proteins in Mice | 8 | 2025 |
| P30EY025580 | Multidisciplinary Investigations in Visual Science | 7 | 2025 |
1 to 10 of 990Source NIH's project files
See all 990 nih grantsPapers1,793
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Computer-Aided Facial Analysis and Non-Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study. | Am J Med Genet A | 2026 | 42817810 | PubTator, text mining | PubMed |
| Clinical translation of CRISPR-Cas9 therapeutics in cancer and inherited genetic disorders. | Front Genome Ed | 2026 | 42787623 | PubTator, text mining | PubMed |
| A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome. | Mol Genet Metab Rep | 2026 | 42774553 | PubTator, text mining | PubMed |
| Divergent microtubule-organizing center strategies in mammalian gametogenesis. | Trends Open | 2026 | 42761981 | PubTator, text mining | PubMed |
| Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state. | Cell Rep | 2026 | 42667617 | PubTator, text mining | PubMed |
| Gene therapy clinical trials for inherited eye diseases: The pediatric perspective. | Eur J Ophthalmol | 2026 | 42627399 | PubTator, text mining | PubMed |
| Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant. | Mol Biol Rep | 2026 | 42593562 | PubTator, text mining | PubMed |
| Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification. | Invest Ophthalmol Vis Sci | 2026 | 42545071 | PubTator, text mining | PubMed |
| Efficacy, Safety, and Durability of Gene Therapy for Inherited Retinal Diseases in the Pediatric Population: A Scoping Review. | Am J Ophthalmol | 2026 | 42537978 | PubTator, text mining | PubMed |
| Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. | Mol Genet Metab Rep | 2026 | 42495084 | PubTator, text mining | PubMed |
1 to 10 of 1,793
See all 1,793 papersSources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this gene from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/genes/v1/80184
GET https://conductscience.org/api/genes/v1/80184/patents?page=2