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 |
|---|---|---|---|---|---|
| OCA2 melanosomal transmembrane protein | MIM:611409 | Ensembl:ENSG00000104044 | HGNC:HGNC:8101 | PA31890 | 15q12-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 |
| BP | IEA | GO:0015828 | tyrosine transport |
| BP | IEA | GO:0030318 | melanocyte differentiation |
| BP | IEA | GO:0042438 | melanin biosynthetic process |
| BP | IEA | GO:0055085 | transmembrane transport |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0010008 | endosome membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0033162 | melanosome membrane |
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in OCA2
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.