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OCA2 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:BEY, BEY1, BEY2, BOCA, D15S12, ENTREZ:4948, EYCL, EYCL2, EYCL3, HCL3, HGNC:8101, MIM:611409, NM_000275, NM_001300984, NP_000266, NP_001287913, OCA2 melanosomal transmembrane protein, OCA2, P, PED, SHEP1, XM_011521640, XM_017022255, XM_017022256, XM_017022257, XM_017022258, XM_017022259, XM_017022260, XM_017022261, XM_017022262, XM_017022263, XM_017022264, XM_017022265, XP_011519942, XP_016877744, XP_016877745, XP_016877746, XP_016877747, XP_016877748, XP_016877749, XP_016877750, XP_016877751, XP_016877752, XP_016877753, XP_016877754, XR_001751294
Omim:OMIM:611409
Id:ENSG00000104044
Hgnc:HGNC:8101
Entrez:4948
Ensembl:ENSG00000104044
Description:OCA2 melanosomal transmembrane protein
This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View OCA2's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with OCA2.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using OCA2.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for OCA2.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with OCA2.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE134191 3 V 1 METFORMIN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE135030 3 V 10 FLUDARABINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE145195 PPP2R3B overexpression 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE149880 2 V 1 TAMOXIFEN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 10 V 6 TRAMETINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE174498,GSE174500 2 V 8 ASPARAGINASE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE202434,GSE202438 2 V 14 TALAZOPARIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE225901 dexamethasone 2 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE77108 8 V 7 SAHA HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158458 2 V 1 SORAFENIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE134191 3 V 1 METFORMIN MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135030 3 V 10 FLUDARABINE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE145195 PPP2R3B overexpression 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE149880 2 V 1 TAMOXIFEN MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 10 V 6 TRAMETINIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE174498,GSE174500 2 V 8 ASPARAGINASE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE202434,GSE202438 2 V 14 TALAZOPARIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE225901 dexamethasone 2 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE77108 8 V 7 SAHA HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158458 2 V 1 SORAFENIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

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    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.