Home > Gene Browser > OCA2

OCA2

Synonyms
BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
24
VUS
6,822
Likely benign
2,330
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on OCA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
39.5%
Abnormality of the nervous system
32.6%
Abnormality of the integument
23.3%
Abnormality of blood and blood-forming tissues
9.3%
Abnormality of the musculoskeletal system
9.3%
Abnormality of head or neck
7%
Abnormality of the ear
7%
Abnormality of the immune system
7%
Abnormality of limbs
4.7%
Abnormality of the cardiovascular system
4.7%
Abnormality of the digestive system
4.7%
Abnormality of the endocrine system
4.7%
Growth abnormality
4.7%
Neoplasm
4.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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