AlphaFold predicted structure
OCA2 · Q04671
Mean pLDDT
73.8/ 100
Confident
838 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)42%
- Low(50–70)9%
- Very low(< 50)20%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
OCA2
Chr 15q12-q13.1OCA2 melanosomal transmembrane protein
- Aliases:
- BEY, BEY1, BEY2, EYCL, SLC13B1
- MANE:
- ENST00000354638.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalInfantile nystagmus
BIALLELIC, autosomal or pseudoautosomalOcular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomalPigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Retinal disorders
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
oculocutaneous albinism type 2
0.85oculocutaneous albinism
0.74Abnormality of skin pigmentation
0.72skin cancer
0.60skin neoplasm
0.60cutaneous melanoma
0.57hair color
0.55basal cell carcinoma
0.54melanoma
0.54hereditary disease
0.53
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
P protein
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513726). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMed:15262401, PubMed:18252222, PubMed:7601462). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity)
Diseases associated with OCA2
Curated MONDO disease pages that list OCA2 among their top associated genes.