OCA2


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. [provided by RefSeq, Jul 2014].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
OCA2 melanosomal transmembrane proteinMIM:611409Ensembl:ENSG00000104044HGNC:HGNC:8101PA3189015q12-q13.1

Gene Categories:

TRANSPORTER

GO terms in OCA2


Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0005215transporter activity
MFTASGO:0005302L-tyrosine transmembrane transporter activity
MFIPIGO:0005515protein binding
BPTASGO:0006726eye pigment biosynthetic process
BPIEAGO:0007286spermatid development
BPIEAGO:0008283cell proliferation
BPIEAGO:0015828tyrosine transport
BPIEAGO:0030318melanocyte differentiation
BPIEAGO:0042438melanin biosynthetic process
BPIEAGO:0055085transmembrane transport
CCTASGO:0005737cytoplasm
CCIDAGO:0005765lysosomal membrane
CCIDAGO:0005789endoplasmic reticulum membrane
CCIDAGO:0010008endosome membrane
CCIEAGO:0016021integral component of membrane
CCIDAGO:0033162melanosome membrane

Gene expression in normal tissue: OCA2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in OCA2


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-5662702Melanin biosynthesis
reactomeR-HSA-71291Metabolism of amino acids and derivatives
wikipathwaysWP3998Prader-Willi and Angelman Syndrome

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in OCA2

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