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OCA2: OCA2 melanosomal transmembrane protein
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Gene · 4948

Papers2,190

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

1 to 20 of 2,190

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TitleJournalYearPMIDFound bySource
CcFTR54 suppresses SVCV replication by promoting NBR1-mediated autophagic degradation of P protein.Fish Shellfish Immunol202642520948PubTator, text miningPubMed
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.Eur J Hum Genet202642477408PubTator, text miningPubMed
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.Mol Genet Metab Rep202642376640PubTator, text miningPubMed
Hepatitis B virus genome packaging and replication are coordinated by a polymerase-responsive RNA switch in the RNA element epsilon.Proc Natl Acad Sci U S A202642330277PubTator, text miningPubMed
BR-FDP-SKIN: Brazilian forensic DNA Skin phenotyping based on machine learning models.Forensic Sci Int202642308827PubTator, text miningPubMed
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.NPJ Genom Med202642156752PubTator, text miningPubMed
[Analysis of a child with Oculocutaneous albinism due to compound heterozygous variants of OCA2 gene].Zhonghua Yi Xue Yi Chuan Xue Za Zhi202642091198PubTator, text miningPubMed
The persistence and loss of hard selective sweeps amid admixture in ancient Eurasians.Proc Natl Acad Sci U S A202642008668PubTator, text miningPubMed
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment Cell Melanoma Res202641905947PubTator, text miningPubMed
Ophthalmic phenotype and strabismus surgery in Angelman syndrome: genotype-specific risks and uniform surgical efficacy.J AAPOS202641905512PubTator, text miningPubMed
Genetic analysis of iris pigmentation in Swiss pig breeds identifies a missense KITLG variant as a potential causal factor for pale and heterochromatic irises.Genet Sel Evol202641882519PubTator, text miningPubMed
Skin Melanin Content and the Foveal Avascular Zone Correlation in a Healthy White Population.Invest Ophthalmol Vis Sci202641848363PubTator, text miningPubMed
Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochem Res202641831085PubTator, text miningPubMed
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.PLoS Genet202641824529PubTator, text miningPubMed
BRAF inhibitor resistance in melanoma: from resistance mechanisms to therapeutic innovations.Mol Biomed202641807883PubTator, text miningPubMed
The roles of post-translational modifications in the pathogenesis of RNA viruses: allies or adversaries?Front Microbiol202641767575PubTator, text miningPubMed
ORANGE: a machine learning approach for modeling tissue-specific aging from transcriptomic data.Brief Bioinform202641766649PubTator, text miningPubMed
Epidemiological characteristics and whole-genome analysis of respiratory syncytial virus in Jining city from February 2023 to December 2024.Front Microbiol202641756121PubTator, text miningPubMed
Development of a Complementation Assay to Monitor Pan-Coronavirus 3C-like Protease Activity.Viruses202641754577PubTator, text miningPubMed
New Fossil Megalopteran and Megalopteran-like Larvae, a First Extinct Larval Morphology of Megaloptera, and Possible Larvae of Myxophagan Beetles.Insects202641752600PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

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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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