oculocutaneous albinism II

Symbol

OCA2 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
hoe2 Drosophila melanogaster
oca2 Danio rerio
Oca2 Mus musculus
LOC308670 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3297 Gene expression of OCA2 decreases with age Molecular skin Human OCA2 —

GO Terms

GO IDGO TermGO Category
GO:0006726 eye pigment biosynthetic process biological_process
GO:0006810 transport biological_process
GO:0007286 spermatid development biological_process
GO:0008283 cell proliferation biological_process
GO:0015828 tyrosine transport biological_process
GO:0030318 melanocyte differentiation biological_process
GO:0042438 melanin biosynthetic process biological_process
GO:0048066 developmental pigmentation biological_process
GO:0055085 transmembrane transport biological_process
GO:0005737 cytoplasm cellular_component
GO:0005765 lysosomal membrane cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0010008 endosome membrane cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0033162 melanosome membrane cellular_component
GO:0005215 transporter activity molecular_function
GO:0005302 L-tyrosine transmembrane transporter activity molecular_function
GO:0005515 protein binding molecular_function
GO:0015105 arsenite transmembrane transporter activity molecular_function
GO:0015137 citrate transmembrane transporter activity molecular_function