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OCA2

Gene

OCA2 melanosomal transmembrane protein

HGNCHGNC:8101EnsemblENSG00000104044NCBI Gene4948
Locus: gene with protein productLocation: 15q12-q13.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asD15S12 · P · EYCL3 · EYCL2 · BEY · BEY1 · BEY2 · EYCL · SLC13B1
View full nomenclature history (14)
Previous symbolsD15S12, P, EYCL3, EYCL2
Alias symbolsBEY, BEY1, BEY2, EYCL, SLC13B1
Previous nameseye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse)
Alias namesmelanocyte-specific transporter protein, P-protein

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Skin Neoplasms
Cutaneous melanoma
Hair color
Basal cell carcinoma
Melanoma
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Solute carrier family 13

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-02-05.
Open TargetsGene–disease associations from the Open Targets Platform.