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Gene · 6121

RPE65: retinoid isomerohydrolase RPE65

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

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ConductScience Library. RPE65: retinoid isomerohydrolase RPE65. Genes, record 6121. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/6121

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Gene

Symbol
RPE65
HGNC
Name
retinoid isomerohydrolase RPE65
HGNC
NCBI Gene ID
6121
NCBI Gene
HGNC ID
HGNC:10294
HGNC
Ensembl
ENSG00000116745
NCBI Gene
Aliases
BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

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

UniProt entryProteinLengthStructuresGene stated in
Q16518Retinoid isomerohydrolase5330Ensembl, GeneID, HGNC

Source UniProt

Patents85

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

PublicationPublishedSEQ ID NOProteinSource
EP 4821560 A22026-10-1412Q16518Espacenet
JP 2026515744 A2026-05-1932Q16518Espacenet
JP 2026004568 A2026-01-1461458Q16518Espacenet
EP 4667578 A22025-12-24307Q16518Espacenet
EP 4641201 A22025-10-291619Q16518Espacenet
JP 2025131621 A2025-09-09307Q16518Espacenet
JP 2025517969 A2025-06-121619Q16518Espacenet
US 12310997 B22025-05-2712Q16518Espacenet
US 12275959 B22025-04-1515Q16518Espacenet
JP 2025039615 A2025-03-2112Q16518Espacenet

1 to 10 of 85

See all 85 patents

Drugs3

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

DrugChEMBL IDMechanismActionSource
EMIXUSTATCHEMBL2107821Retinoid isomerohydrolase inhibitorINHIBITORChEMBL
EMIXUSTAT HYDROCHLORIDECHEMBL2107829Retinoid isomerohydrolase inhibitorINHIBITORChEMBL
VORETIGENE NEPARVOVECCHEMBL3707275Retinoid isomerohydrolase exogenous geneEXOGENOUS GENEChEMBL

Trials10

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

TrialDrugPhaseResults first postedSource
NCT03772665EMIXUSTAT HYDROCHLORIDEPHASE32023-08-03ClinicalTrials.gov
NCT03597399VORETIGENE NEPARVOVECClinicalTrials.gov
NCT03033108EMIXUSTAT HYDROCHLORIDEPHASE22021-04-27ClinicalTrials.gov
NCT02753400EMIXUSTAT HYDROCHLORIDEPHASE22021-04-27ClinicalTrials.gov
NCT02130531EMIXUSTAT HYDROCHLORIDEPHASE1ClinicalTrials.gov
NCT01802866EMIXUSTAT HYDROCHLORIDEPHASE2/PHASE3ClinicalTrials.gov
NCT01208389VORETIGENE NEPARVOVECPHASE1/PHASE2ClinicalTrials.gov
NCT01002950EMIXUSTATPHASE2ClinicalTrials.gov
NCT00999609VORETIGENE NEPARVOVECPHASE32018-03-26ClinicalTrials.gov
NCT00516477VORETIGENE NEPARVOVECPHASE1ClinicalTrials.gov

NIH grants1,510

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

GrantTitleRPE65 papersNewest fiscal year
R01EY009339Retinoids in Vision572025
ZIAEY000260Molecular Biology Of Outer Retina-specific Proteins352025
P30EY011373CWRU NEI Vision Center Core Grant342025
R01EY018213Defining Barriers to Gene Therapy322025
P30EY001583P30 Core Grant For Vision Research282025
R01EY006855Models for Therapy of Hereditary Retinal Degeneration232025
P30EY014800University of Utah Core Vision Research Grant222025
P30CA013696Cancer Center Support Grant212025
R01EY024698Gene Editing and Silencing in Phototransduction202025
P30EY010572Ophthalmology Core Facility182025

1 to 10 of 1,510Source NIH's project files

See all 1,510 nih grants

Papers3,325

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
Sustained improvement in dark-adapted sensitivity but not BCVA after voretigene neparvovec treatment in a mainland Chinese child with biallelic RPE65-associated LCA2: a case report.Front Pharmacol202642755963PubTator, text miningPubMed
Progress in gene therapy for RPGR-associated X-linked retinitis pigmentosa.Expert Opin Biol Ther202642733973PubTator, text miningPubMed
Delayed foveal atrophy following early visual improvement after voretigene neparvovec gene therapy in a child.Eye (Lond)202642693233PubTator, text miningPubMed
Voretigene Neparvovec (Luxturna) for Biallelic RPE65-Associated Retinal Dystrophy: Systematic Review.Am J Ophthalmol202642674265PubTator, text miningPubMed
Gene therapy clinical trials for inherited eye diseases: The pediatric perspective.Eur J Ophthalmol202642627399PubTator, text miningPubMed
Reverse amblyopia following gene therapy-induced visual improvement in a child with retinal pigment epithelium-65 inherited retinal dystrophy.BMJ Case Rep202642624634PubTator, text miningPubMed
Personalized Pathogenicity Assessment of RPE65 Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model.Int J Mol Sci202642449920PubTator, text miningPubMed
Congenital stationary night blindness with a fundus albipunctatus-like yellow-dotted retina associated with compound heterozygous RPE65 variants: A case report.Retin Cases Brief Rep202642447353PubTator, text miningPubMed
Post-approval outcomes of voretigene neparvovec (Luxturna®) retinal gene therapy: A systematic review and meta-analysis.Surv Ophthalmol202642425207PubTator, text miningPubMed
Clinical and genetic characteristics of RPE65-associated inherited retinal degeneration in Koreans.Sci Rep202642365082PubTator, text miningPubMed

1 to 10 of 3,325

See all 3,325 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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