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Gene · 4948

OCA2: OCA2 melanosomal transmembrane protein

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

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ConductScience Library. OCA2: OCA2 melanosomal transmembrane protein. Genes, record 4948. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/4948

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Gene

Symbol
OCA2
HGNC
Name
OCA2 melanosomal transmembrane protein
HGNC
NCBI Gene ID
4948
NCBI Gene
HGNC ID
HGNC:8101
HGNC
Ensembl
ENSG00000104044
NCBI Gene
Aliases
BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, SLC13B1
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

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

UniProt entryProteinLengthStructuresGene stated in
Q04671P protein8380Ensembl, GeneID, HGNC

Source UniProt

Patents19

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

PublicationPublishedSEQ ID NOProteinSource
JP 2026513271 A2026-04-2366Q04671Espacenet
EP 4687826 A12026-02-1166Q04671Espacenet
JP 2026004568 A2026-01-1456473Q04671Espacenet
KR 1020250166233 A2025-11-2766Q04671Espacenet
EP 4640849 A22025-10-291041Q04671Espacenet
EP 4641201 A22025-10-296983Q04671Espacenet
JP 2025529142 A2025-09-042933Q04671Espacenet
US 12371689 B22025-07-292933Q04671Espacenet
JP 2025519096 A2025-06-241041Q04671Espacenet
JP 2025517969 A2025-06-126983Q04671Espacenet

1 to 10 of 19

See all 19 patents

Drugs0

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

None in this release.

Trials0

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

None in this release.

NIH grants1,242

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

GrantTitleOCA2 papersNewest fiscal year
R01EY015625Hermansky-Pudlak syndrome and melanosome formation132025
P30CA016672Cancer Center Support Grant72025
P30CA021765Cancer Center Support Grant (CCSG)72025
K12GM081259IRACDA at the University of Pennsylvania: Penn Postdoctoral Opportunities in Research and Teaching (PennPORT).52025
P01CA163222Targetable epigenetic and transcriptional mechanisms in melanoma thatshape the microenvironment52025
P30CA008748Cancer Center Support Grant52025
P30CA016086Cancer Center Support Grant52025
R01CA241623The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility52025
K24AR069760Patient oriented research and mentoring program in dermatologic diseases42025
P30CA006927Comprehensive Cancer Center Program at Fox Chase42025

1 to 10 of 1,242Source NIH's project files

See all 1,242 nih grants

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.

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

1 to 10 of 2,190

See all 2,190 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.

For software

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The record and each of its lists are JSON, twenty rows a page. No key.

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