OCA2

Chr 15AR

OCA2 melanosomal transmembrane protein

Also known as: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3

NCBI Gene: 4948ENSG00000104044UniProt: Q04671OMIM: 203200

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Albinism, oculocutaneous, type IIMIM #203200
AR
Albinism, brown oculocutaneousMIM #203200
AR
{Albinism, oculocutaneous, type II, modifier of}MIM #203200
AR
[Skin/hair/eye pigmentation 1, blond/brown hair]MIM #227220
AR
[Skin/hair/eye pigmentation 1, blue/nonblue eyes]MIM #227220
AR
Albinism, brown oculocutaneousMIM #203200
AR
Albinism, oculocutaneous, type IIMIM #203200
AR

Clinical highlights

Gene-disease validity (ClinGen)
oculocutaneous albinism type 2 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
63
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — OCA2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.32
OE 0.62 (0.46–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.83Z-score
OE missense 1.11 (1.03–1.19)
535 obs / 483.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.46–0.86)
0≤0.351.4
Missense OE?1.11 (1.03–1.19)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 27 / 43.5Missense obs/exp: 535 / 483.5Syn Z: -1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OCA2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients