OCA2 Chromosome 15
OCA2 melanosomal transmembrane protein
Upload your DNA to see your personal genotypes for variants in OCA2.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 13
Locus Type
gene with protein product
Location
15q12-q13.1
Ensembl
ENSG00000104044
Associated Conditions (18)
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1
BLUE/NONBLUE EYES
Oculocutaneous albinism
Albinism
Nonsyndromic Oculocutaneous Albinism
Albinism or congenital nystagmus
Uveal melanoma
Ovarian serous cystadenocarcinoma
Inborn genetic diseases
Cone-rod dystrophy
6 conditions
Clear cell carcinoma of kidney
Brown oculocutaneous albinism
Hypophosphatasia
See cases
Melanoma
Key Variants
RS1046172334
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS1158730024
Conflicting classifications of pathogenicity
Health Risk
RS1258451850
Conflicting classifications of pathogenicity
OCA2-related disorder, OCA2-related disorder
Health Risk
RS1277911369
Conflicting classifications of pathogenicity
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS1325388159
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS1374558186
Conflicting classifications of pathogenicity
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, OCA2-related disorder
Health Risk
RS137956605
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS138065338
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Health Risk
RS1391198560
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS140566426
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Health Risk
RS140932222
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
Health Risk
RS141603023
Conflicting classifications of pathogenicity
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
Health Risk
All Variants (330)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2548483829 | Health Risk | Likely pathogenic | — |
| RS2548494983 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS2548495546 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS2548495706 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS2548670726 | Health Risk | Likely pathogenic | — |
| RS370239668 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS370273412 | Health Risk | Likely pathogenic | — |
| RS570914443 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS747214535 | Health Risk | Likely pathogenic | Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS747940330 | Health Risk | Likely pathogenic | — |
| RS748537823 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS749249918 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS753721437 | Health Risk | Likely pathogenic | Oculocutaneous albinism, Oculocutaneous albinism |
| RS757286784 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS759740402 | Health Risk | Likely pathogenic | Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism |
| RS769370108 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS771063630 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS774784508 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS776631782 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS780628028 | Health Risk | Likely pathogenic | Oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS780713145 | Health Risk | Likely pathogenic | — |
| RS781471173 | Health Risk | Likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS797045838 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS879253729 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS957981838 | Health Risk | Likely pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS970276749 | Health Risk | Likely pathogenic | — |
| RS1004064327 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1169783208 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS121918168 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS1261095563 | Health Risk | Pathogenic | — |
| RS1272465233 | Health Risk | Pathogenic | — |
| RS1312967591 | Health Risk | Pathogenic | Oculocutaneous albinism, Oculocutaneous albinism |
| RS1322260893 | Health Risk | Pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Tyrosinase-positive oculocutaneous albinism |
| RS1368074390 | Health Risk | Pathogenic | OCA2-related disorder, OCA2-related disorder |
| RS1407174563 | Health Risk | Pathogenic | — |
| RS1429912526 | Health Risk | Pathogenic | — |
| RS1470522588 | Health Risk | Pathogenic | — |
| RS1476192724 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS1555375711 | Health Risk | Pathogenic | Brown oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism, Brown oculocutaneous albinism |
| RS1555391997 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1555392037 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1555422232 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1567114551 | Health Risk | Pathogenic | — |
| RS1567168441 | Health Risk | Pathogenic | — |
| RS1595660890 | Health Risk | Pathogenic | OCA2-related disorder, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS1595717218 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| RS1595774445 | Health Risk | Pathogenic | Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS1940461548 | Health Risk | Pathogenic | — |
| RS201791790 | Health Risk | Pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Hypophosphatasia |
| RS2030268600 | Health Risk | Pathogenic | — |