| Gene Symbol |
OCA2
|
| Entrez Gene |
4948
|
| Alt Symbol |
BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
oculocutaneous albinism II
|
| Other Description |
P protein|P-protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation
|
| Swissprots |
Q96EN1 Q9UMI5 Q15212 Q15211 Q04671
|
| Accessions |
AAC13783 AAC13784 EAW57661 EAW57662 EAW57663 Q04671 BC012097 AAH12097 BX398277 M97901 AAA36430 M99564 AAA36477 XM_011521639 XP_011519941 XM_011521640 XP_011519942 XM_011521641 XP_011519943 XM_011521642 XP_011519944 XM_011521643 XP_011519945 XM_011521644 XP_011519946 XM_011521645 XP_011519947 XM_011521646 XP_011519948 XM_011521647 XP_011519949 XR_931843 NM_000275 NP_000266 NM_001300984 NP_001287913
|
| Function |
Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. {ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890, ECO:0000269|PubMed:7601462}.
|
| Subcellular Location |
Melanosome membrane {ECO:0000269|PubMed:7601462}; Multi-pass membrane protein {ECO:0000269|PubMed:7601462}.
|