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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611409 Ensembl IDEnsembl:ENSG00000104044 HGNC IDHGNC:HGNC:8101 PHARMGKB IDPA31890 Map Location15q12-q13.1 | |||||
Gene Categories:
TRANSPORTERGO terms in OCA2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005215 | transporter activity |
| MF | TAS | GO:0005302 | L-tyrosine transmembrane transporter activity |
| MF | IPI | GO:0005515 | protein binding |
| BP | TAS | GO:0006726 | eye pigment biosynthetic process |
| BP | IEA | GO:0007286 | spermatid development |
| BP | IEA | GO:0008283 | cell proliferation |
Gene expression in normal tissue: OCA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in OCA2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-5662702 | Melanin biosynthesis |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| wikipathways | WP3998 | Prader-Willi and Angelman Syndrome |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in OCA2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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