| GENE NAME | OCA2 |
| CHROMOSOME | 15 |
| ENSEMBL ID | ENSG00000104044 |
| ENTREZ ID | 4948 |
| UNIPROT ACCESSION NUMBER | Q04671 |
| GO MOLECULAR FUNCTION | transporter activity; protein binding; L-tyrosine transmembrane transporter activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-71291; R-HSA-1430728; R-HSA-5662702 |
| 9 combinations linked to OCA2 | OLI217; OLI1099; OLI220; OLI073; OLI1096; OLI1095; OLI071; OLI1098; OLI1097 |
| 6 variants linked to OCA2 | OCA2:c.2497G>T, p.Val833Leu; OCA2:c.1441G>A, p.Ala481Thr; OCA2:c.1327G>A, p.Val443Ile; OCA2:c.79G>A, p.Gly27Arg; OCA2:c.1456G>T, p.Asp486Tyr; OCA2:c.954G>A, p.Met318Ile |
| 2 diseases linked to OCA2 | Ocular albinism; Oculocutaneous albinism |