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Gene · 80184

CEP290: centrosomal protein 290

12 sourcesgene-search-2026-11-11-0.2.0

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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

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Gene

Symbol
CEP290
HGNC
Name
centrosomal protein 290
HGNC
NCBI Gene ID
80184
NCBI Gene
HGNC ID
HGNC:29021
HGNC
Ensembl
ENSG00000198707
NCBI Gene
Aliases
3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
O15078Centrosomal protein of 290 kDa2,4790Ensembl, GeneID, HGNC

Source UniProt

Patents67

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026515744 A2026-05-19217O15078Espacenet
EP 4704920 A12026-03-11203O15078Espacenet
JP 2026004568 A2026-01-1440887O15078Espacenet
EP 4667578 A22025-12-2462O15078Espacenet
EP 4650780 A22025-11-1916533O15078Espacenet
EP 4641201 A22025-10-2920363O15078Espacenet
US 12454702 B22025-10-281O15078Espacenet
JP 2025131621 A2025-09-0962O15078Espacenet
JP 2025517969 A2025-06-1220363O15078Espacenet
JP 2025517970 A2025-06-1216533O15078Espacenet

1 to 10 of 67

See all 67 patents

Drugs1

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

DrugChEMBL IDMechanismAction
SEPOFARSENCHEMBL4594497CEP290 mRNA positive modulatorPOSITIVE MODULATOR

Source ChEMBL

Trials5

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

TrialDrugPhaseResults first postedSource
NCT06891443SEPOFARSENPHASE3ClinicalTrials.gov
NCT04855045SEPOFARSENPHASE2/PHASE3ClinicalTrials.gov
NCT03913143SEPOFARSENPHASE2/PHASE3ClinicalTrials.gov
NCT03913130SEPOFARSENPHASE1/PHASE22023-01-04ClinicalTrials.gov
NCT03140969SEPOFARSENPHASE1/PHASE22022-12-27ClinicalTrials.gov

NIH grants990

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleCEP290 papersNewest fiscal year
R01EY018571Genetics of early onset retinal diseases172025
R01EY018213Defining Barriers to Gene Therapy142025
R01EY022356Molecular Basis of Human Visual System Disorders132025
P30CA013696Cancer Center Support Grant112025
ZIAHG000215Human Biochemical Genetics102025
R01EY024698Gene Editing and Silencing in Phototransduction92025
ZIAEY000546Mechanisms, modeling and therapies of retinal and macular neurodegeneration92025
P30EY001583P30 Core Grant For Vision Research82025
R01GM060992Intraflagellar Transport Proteins in Mice82025
P30EY025580Multidisciplinary Investigations in Visual Science72025

1 to 10 of 990Source NIH's project files

See all 990 nih grants

Papers1,793

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
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 A202642817810PubTator, text miningPubMed
Clinical translation of CRISPR-Cas9 therapeutics in cancer and inherited genetic disorders.Front Genome Ed202642787623PubTator, text miningPubMed
A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome.Mol Genet Metab Rep202642774553PubTator, text miningPubMed
Divergent microtubule-organizing center strategies in mammalian gametogenesis.Trends Open202642761981PubTator, text miningPubMed
Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.Cell Rep202642667617PubTator, text miningPubMed
Gene therapy clinical trials for inherited eye diseases: The pediatric perspective.Eur J Ophthalmol202642627399PubTator, text miningPubMed
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 Rep202642593562PubTator, text miningPubMed
Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.Invest Ophthalmol Vis Sci202642545071PubTator, text miningPubMed
Efficacy, Safety, and Durability of Gene Therapy for Inherited Retinal Diseases in the Pediatric Population: A Scoping Review.Am J Ophthalmol202642537978PubTator, text miningPubMed
Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders.Mol Genet Metab Rep202642495084PubTator, text miningPubMed

1 to 10 of 1,793

See all 1,793 papers

Sources 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.

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