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P protein

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of OCA2 is involved in the light skin tone and the derived allele is restricted to East Asia with high frequencies, with highest frequencies in Eastern East Asia (49-63%), midrange frequencies in Southeast Asia, and the lowest frequencies in Western China and some Eastern European populations.
1500:
Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, et al. (March 2008). "Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression".
1146:. The prevalence of OCA type 2 is estimated at 1/38,000-1/40,000 in most populations throughout the world, with a higher prevalence in the African population of 1/3,900–1/1,500. Other diseases associated with the deletion of the OCA2 gene are 2340:
Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, et al. (June 2002). "The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase".
1956:
Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, et al. (November 1994). "Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)".
1978:
Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, et al. (June 1994). "African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism".
2051:
Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, et al. (January 1993). "A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism".
1084:. Melanin is responsible for giving color to the skin, hair, and eyes. Moreover, melanin is found in the light-sensitive tissue of the retina of the eye which plays a role in normal vision. 1810:
Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, et al. (August 1992). "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes".
2260: 1892:
Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA (March 1995). "Organization and sequence of the human P gene and identification of a new family of transport proteins".
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Passmore LA, Kaesmann-Kellner B, Weber BH (September 1999). "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population".
1644:"Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation" 2311:
Manga P, Orlow SJ (October 2001). "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1".
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The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.
1295:"A chromosome-level genome of Astyanax mexicanus surface fish for comparing population-specific genetic differences contributing to trait evolution" 2392: 1855:
Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (September 1991). "Absence of predictable phenotypic expression in proximal 15q duplications".
1252: 1234: 1154:(unusually light-colored hair and fair skin). With both these syndromes, the deletion often occurs in individuals with either syndrome. 1126:
Mutations in the OCA2 gene cause a disruption in the normal production of melanin; therefore, causing vision problems and reductions in
243: 2157: 2140: 945: 2200: 2183: 2114: 2097: 952: 1715: 1698: 220: 1273: 2270:"In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified" 1221: 1200: 1403: 142: 117: 1217: 1546:"A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color" 2184:"Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online" 1196: 1103:
production. This gene seems to be the main determinant of eye color depending on the amount of melanin production in the
59: 1471: 1165:. It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. 256: 155: 1081: 1151: 1087:
The exact function of protein P is unknown, but it has been found that it is essential for the normal coloring of
1034: 249: 148: 1161:
gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with
50:, BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, PED, SHEP1, OCA2 melanosomal transmembrane protein, P 1742:"The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH" 782: 67: 2018:"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" 1923:"Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)" 1118:
in cave's individuals. It exists as a deletion in Pachón and Molino's caves fish that produces the albinism.
1139: 1046: 763: 759: 2377: 1699:"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism" 1351: 2254: 1057: 131: 2141:"Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa" 2060: 1819: 1306: 46: 907: 856: 2397: 2213: 2170: 2127: 2084: 2004: 1880: 1843: 1728: 1526: 1111: 91: 928: 903: 877: 852: 2402: 2358: 2328: 2299: 2242: 2205: 2162: 2119: 2076: 2039: 1996: 1966: 1944: 1909: 1872: 1835: 1798: 1763: 1720: 1675: 1624: 1575: 1518: 1332: 1293:
Warren WC, Boggs TE, Borowsky R, Carlson BM, Ferrufino E, Gross JB, et al. (March 2021).
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Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, et al. (October 1992).
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Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, et al. (1997).
1544:
Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, et al. (February 2008).
1453: 1107:(large amounts giving rise to brown eyes; little to no melanin giving rise to blue eyes). 494: 311: 87: 2182:
Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, et al. (1998).
1593:
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, et al. (May 2012).
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OCA2 provides instructions for making the protein called P protein which is located in
2324: 1777:"The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12" 1758: 1741: 648: 643: 638: 633: 628: 623: 618: 613: 608: 592: 587: 582: 577: 572: 567: 562: 546: 541: 536: 2386: 2354: 1905: 523: 2217: 2088: 1884: 1732: 2174: 2131: 2008: 1847: 1530: 1411: 329: 108: 1831: 1052: 71: 2016:
Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (February 1994).
1660: 1274:"Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse)" 95: 2034: 2017: 1257:
National Center for Biotechnology Information, U.S. National Library of Medicine
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National Center for Biotechnology Information, U.S. National Library of Medicine
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Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, et al. (March 2010).
1561: 1318: 412: 1610: 1514: 1096: 1088: 1073: 1049:. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. 228: 125: 75: 1479: 1197:
ENSG00000277361 GRCh38: Ensembl release 89: ENSG00000104044, ENSG00000277361
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10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z
2098:"Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)" 1356: 1115: 1038: 976: 827: 808: 2201:
10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7
2115:
10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X
1382:
Genetics Home Reference - Your guide to understanding genetic conditions
2139:
Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, et al. (2000).
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10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C
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Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M (March 2001).
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GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2
503: 1056:
In human, the OCA2 gene is located on the long (q) arm of
1595:"A global view of the OCA2-HERC2 region and pigmentation" 319: 1478:. University of Copenhagen. 2008-01-30. Archived from 1037:
involved in small molecule transport, specifically of
1921:
Spritz RA, Fukai K, Holmes SA, Luande J (June 1995).
1114:, a Mexican fish which is characterized by a chronic 484: 921: 896: 870: 845: 1213: 1211: 1209: 1192: 1190: 1188: 1472:"Blue-eyed humans have a single, common ancestor" 266: 165: 1142:caused by mutations in the OCA2 gene is called 1218:GRCm38: Ensembl release 89: ENSMUSG00000030450 2259:: CS1 maint: DOI inactive as of April 2024 ( 1045:. Certain mutations in OCA2 result in type 2 542:L-tyrosine transmembrane transporter activity 8: 674: 519: 307: 206: 103: 2293: 2199: 2156: 2113: 2033: 1938: 1792: 1757: 1714: 1669: 1659: 1618: 1569: 1326: 1076:which are specialized cells that produce 1435:"Here's what made those brown eyes blue" 1268: 1266: 1184: 1150:(light-colored hair and fair skin) and 1009:melanocyte-specific transporter protein 2252: 1454:"One Common Ancestor Behind Blue Eyes" 20: 1404:"Don't it make your brown eyes blue?" 1033:. The P protein is believed to be an 271: 232: 227: 170: 129: 124: 7: 2022:The New England Journal of Medicine 1384:. U.S. National Library of Medicine 1378:"OCA2 - oculocutaneous albinism II" 2274:American Journal of Human Genetics 1927:American Journal of Human Genetics 1869:10.1111/j.1399-0004.1991.tb03076.x 1781:American Journal of Human Genetics 1550:American Journal of Human Genetics 1350:Hayashi M, Suzuki T (April 2013). 1013:pink-eyed dilution protein homolog 918: 893: 867: 842: 818: 799: 773: 750: 724: 705: 489: 431:choroid plexus of fourth ventricle 407: 345: 324: 14: 2325:10.1034/j.1600-0749.2001.140508.x 1759:10.1034/j.1600-0749.2001.140203.x 1019:that in humans is encoded by the 2355:10.1034/j.1600-0749.2002.02007.x 1352:"Oculocutaneous albinism type 2" 609:eye pigment biosynthetic process 493: 255: 248: 242: 219: 154: 147: 141: 116: 1144:oculocutaneous albinism type 2 593:integral component of membrane 563:endoplasmic reticulum membrane 504:More reference expression data 473:More reference expression data 1: 1832:10.1126/science.257.5073.1121 1060:between positions 12 and 13.1 629:cell population proliferation 240: 139: 16:Protein-coding gene in humans 2393:Genes on human chromosome 15 1906:10.1016/0888-7543(95)80220-G 1697:Oetting WS, King RA (1999). 1661:10.1371/journal.pgen.1000867 624:melanin biosynthetic process 439:Epithelium of choroid plexus 365:Epithelium of choroid plexus 2035:10.1056/NEJM199402243300803 1740:Brilliant MH (April 2001). 2419: 1562:10.1016/j.ajhg.2007.11.005 1319:10.1038/s41467-021-21733-z 1082:retinal pigment epithelium 1080:, and in the cells of the 1021:oculocutaneous albinism II 644:melanocyte differentiation 619:developmental pigmentation 427:retinal pigment epithelium 361:retinal pigment epithelium 1611:10.1007/s00439-011-1110-x 1515:10.1007/s00439-007-0460-x 1253:"Mouse PubMed Reference:" 1235:"Human PubMed Reference:" 1099:; and likely involved in 1035:integral membrane protein 991: 986: 982: 975: 959: 940: 925: 900: 889: 874: 849: 838: 825: 821: 806: 802: 793: 780: 776: 757: 753: 744: 731: 727: 712: 708: 699: 684: 677: 673: 657: 522: 518: 501: 492: 483: 470: 419: 410: 385:epithelium of nasopharynx 357: 348: 318: 310: 306: 289: 276: 239: 218: 209: 205: 188: 175: 138: 115: 106: 102: 57: 54: 44: 37: 32: 28: 23: 1959:Human Molecular Genetics 1110:This gene is mutated in 2241:(inactive 2024-04-08). 1452:Bryner J (2008-01-31). 1433:Bryner J (2008-01-31). 1140:Oculocutaneous albinism 1047:oculocutaneous albinism 953:Chr 7: 55.89 – 56.19 Mb 946:Chr 15: 27.75 – 28.1 Mb 634:transmembrane transport 1408:Understanding Genetics 1061: 2343:Pigment Cell Research 2313:Pigment Cell Research 2239:10.1007/s004390051090 1746:Pigment Cell Research 1299:Nature Communications 1152:Prader–Willi syndrome 1122:Clinical significance 1055: 639:spermatid development 132:Chromosome 15 (human) 537:transporter activity 273:7 B5|7 33.44 cM 234:Chromosome 7 (mouse) 2065:1993Natur.361...72R 1824:1992Sci...257.1121G 1818:(5073): 1121–1124. 1311:2021NatCo..12.1447W 588:melanosome membrane 1993:10.1038/ng0694-176 1157:A mutation in the 1112:Astyanax mexicanus 1062: 783:ENSMUSG00000030450 649:tyrosine transport 602:Biological process 568:lysosomal membrane 556:Cellular component 530:Molecular function 447:epithelium of lens 1965:(11): 2047–2051. 1857:Clinical Genetics 1148:Angelman syndrome 1002: 1001: 998: 997: 971: 970: 936: 935: 915: 914: 885: 884: 864: 863: 834: 833: 815: 814: 789: 788: 770: 769: 740: 739: 721: 720: 669: 668: 573:endosome membrane 514: 513: 510: 509: 479: 478: 466: 465: 404: 403: 302: 301: 201: 200: 2410: 2366: 2336: 2307: 2297: 2264: 2258: 2250: 2221: 2203: 2178: 2160: 2135: 2117: 2092: 2073:10.1038/361072a0 2047: 2037: 2012: 1974: 1952: 1942: 1933:(6): 1320–1323. 1917: 1888: 1851: 1806: 1796: 1771: 1761: 1736: 1718: 1684: 1683: 1673: 1663: 1639: 1633: 1632: 1622: 1590: 1584: 1583: 1573: 1541: 1535: 1534: 1497: 1491: 1490: 1488: 1487: 1468: 1466: 1465: 1460:. Imaginova Corp 1449: 1447: 1446: 1430: 1424: 1423: 1421: 1419: 1410:. Archived from 1400: 1394: 1393: 1391: 1389: 1374: 1368: 1367: 1365: 1364: 1347: 1341: 1340: 1330: 1290: 1284: 1283: 1281: 1280: 1270: 1261: 1260: 1249: 1243: 1242: 1231: 1225: 1215: 1204: 1194: 1041:—a precursor of 1007:, also known as 984: 983: 955: 948: 931: 919: 910: 894: 890:RefSeq (protein) 880: 868: 859: 843: 819: 800: 774: 751: 725: 706: 675: 520: 506: 497: 490: 475: 415: 413:Top expressed in 408: 369:secondary oocyte 353: 351:Top expressed in 346: 325: 308: 298: 285: 274: 259: 252: 246: 235: 223: 207: 197: 184: 173: 158: 151: 145: 134: 120: 104: 98: 96:OCA2 - orthologs 49: 42: 21: 2418: 2417: 2413: 2412: 2411: 2409: 2408: 2407: 2383: 2382: 2374: 2369: 2339: 2310: 2267: 2251: 2224: 2181: 2138: 2095: 2059:(6407): 72–76. 2050: 2015: 1981:Nature Genetics 1977: 1955: 1920: 1891: 1854: 1809: 1774: 1739: 1696: 1692: 1690:Further reading 1687: 1654:(3): e1000867. 1641: 1640: 1636: 1592: 1591: 1587: 1543: 1542: 1538: 1499: 1498: 1494: 1485: 1483: 1470: 1463: 1461: 1451: 1444: 1442: 1432: 1431: 1427: 1417: 1415: 1402: 1401: 1397: 1387: 1385: 1376: 1375: 1371: 1362: 1360: 1349: 1348: 1344: 1292: 1291: 1287: 1278: 1276: 1272: 1271: 1264: 1251: 1250: 1246: 1233: 1232: 1228: 1216: 1207: 1195: 1186: 1182: 1124: 1070: 993:View/Edit Mouse 988:View/Edit Human 951: 944: 941:Location (UCSC) 927: 906: 902: 876: 855: 851: 764:ENSG00000277361 762: 760:ENSG00000104044 653: 597: 551: 547:protein binding 502: 471: 462: 457: 453: 449: 445: 441: 437: 433: 429: 425: 411: 400: 395: 391: 387: 383: 379: 375: 371: 367: 363: 349: 293: 280: 272: 262: 261: 260: 253: 233: 210:Gene location ( 192: 179: 171: 161: 160: 159: 152: 130: 107:Gene location ( 58: 45: 38: 17: 12: 11: 5: 2416: 2414: 2406: 2405: 2400: 2395: 2385: 2384: 2381: 2380: 2373: 2372:External links 2370: 2368: 2367: 2349:(3): 217–224. 2337: 2319:(5): 362–367. 2308: 2286:10.1086/318800 2280:(3): 782–787. 2265: 2233:(3): 200–210. 2227:Human Genetics 2222: 2188:Human Mutation 2179: 2151:(2): 166–172. 2145:Human Mutation 2136: 2108:(2): 175–177. 2102:Human Mutation 2093: 2048: 2028:(8): 529–534. 2013: 1987:(2): 176–179. 1975: 1953: 1918: 1900:(2): 354–363. 1889: 1863:(3): 194–201. 1852: 1807: 1787:(4): 879–884. 1772: 1737: 1703:Human Mutation 1693: 1691: 1688: 1686: 1685: 1634: 1605:(5): 683–696. 1599:Human Genetics 1585: 1556:(2): 424–431. 1536: 1509:(2): 177–187. 1503:Human Genetics 1492: 1425: 1414:on 12 May 2018 1395: 1369: 1342: 1285: 1262: 1244: 1226: 1205: 1183: 1181: 1178: 1123: 1120: 1069: 1066: 1000: 999: 996: 995: 990: 980: 979: 973: 972: 969: 968: 966: 964: 957: 956: 949: 942: 938: 937: 934: 933: 923: 922: 916: 913: 912: 898: 897: 891: 887: 886: 883: 882: 872: 871: 865: 862: 861: 847: 846: 840: 836: 835: 832: 831: 823: 822: 816: 813: 812: 804: 803: 797: 791: 790: 787: 786: 778: 777: 771: 768: 767: 755: 754: 748: 742: 741: 738: 737: 729: 728: 722: 719: 718: 710: 709: 703: 697: 696: 691: 686: 682: 681: 671: 670: 667: 666: 655: 654: 652: 651: 646: 641: 636: 631: 626: 621: 616: 611: 605: 603: 599: 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1547: 1540: 1537: 1532: 1528: 1524: 1520: 1516: 1512: 1508: 1504: 1496: 1493: 1482:on 2013-07-02 1481: 1477: 1473: 1459: 1455: 1440: 1436: 1429: 1426: 1413: 1409: 1405: 1399: 1396: 1383: 1379: 1373: 1370: 1359: 1358: 1353: 1346: 1343: 1338: 1334: 1329: 1324: 1320: 1316: 1312: 1308: 1304: 1300: 1296: 1289: 1286: 1275: 1269: 1267: 1263: 1258: 1254: 1248: 1245: 1240: 1236: 1230: 1227: 1223: 1219: 1214: 1212: 1210: 1206: 1202: 1198: 1193: 1191: 1189: 1185: 1179: 1177: 1174: 1171: 1166: 1164: 1160: 1155: 1153: 1149: 1145: 1141: 1137: 1133: 1129: 1121: 1119: 1117: 1113: 1108: 1106: 1102: 1098: 1094: 1090: 1085: 1083: 1079: 1075: 1067: 1065: 1059: 1058:chromosome 15 1054: 1050: 1048: 1044: 1040: 1036: 1032: 1028: 1027: 1022: 1018: 1014: 1010: 1006: 994: 989: 985: 981: 978: 974: 967: 965: 962: 958: 954: 950: 947: 943: 939: 932: 930: 924: 920: 917: 911: 909: 905: 899: 895: 892: 888: 881: 879: 873: 869: 866: 860: 858: 854: 848: 844: 841: 839:RefSeq (mRNA) 837: 830: 829: 824: 820: 817: 811: 810: 805: 801: 798: 796: 792: 785: 784: 779: 775: 772: 766: 765: 761: 756: 752: 749: 747: 743: 736: 735: 730: 726: 723: 717: 716: 711: 707: 704: 702: 698: 695: 692: 690: 687: 683: 680: 676: 672: 665: 661: 656: 650: 647: 645: 642: 640: 637: 635: 632: 630: 627: 625: 622: 620: 617: 615: 612: 610: 607: 606: 604: 601: 600: 594: 591: 589: 586: 584: 581: 579: 576: 574: 571: 569: 566: 564: 561: 560: 558: 555: 554: 548: 545: 543: 540: 538: 535: 534: 532: 529: 528: 525: 524:Gene ontology 521: 517: 505: 500: 496: 491: 488: 486: 482: 474: 469: 458: 455:barrel cortex 454: 450: 446: 443:hair follicle 442: 438: 434: 430: 426: 422: 421: 418: 414: 409: 406: 396: 392: 388: 384: 380: 376: 373:hair follicle 372: 368: 364: 360: 359: 356: 352: 347: 344: 343: 340: 338: 334: 332: 331: 327: 326: 323: 321: 317: 313: 309: 305: 297: 292: 288: 284: 279: 269: 265: 258: 251: 245: 238: 230: 226: 222: 217: 213: 208: 204: 196: 191: 187: 183: 178: 168: 164: 157: 150: 144: 137: 133: 127: 123: 119: 114: 110: 105: 101: 97: 93: 89: 85: 81: 77: 73: 69: 65: 61: 53: 48: 41: 36: 31: 27: 22: 19: 2346: 2342: 2316: 2312: 2277: 2273: 2255:cite journal 2230: 2226: 2191: 2187: 2148: 2144: 2105: 2101: 2056: 2052: 2025: 2021: 1984: 1980: 1962: 1958: 1930: 1926: 1897: 1893: 1860: 1856: 1815: 1811: 1784: 1780: 1752:(2): 86–93. 1749: 1745: 1706: 1702: 1651: 1647: 1637: 1602: 1598: 1588: 1553: 1549: 1539: 1506: 1502: 1495: 1484:. Retrieved 1480:the original 1475: 1462:. Retrieved 1457: 1443:. Retrieved 1438: 1428: 1416:. Retrieved 1412:the original 1407: 1398: 1386:. Retrieved 1381: 1372: 1361:. Retrieved 1355: 1345: 1302: 1298: 1288: 1277:. Retrieved 1256: 1247: 1238: 1229: 1169: 1167: 1156: 1143: 1125: 1109: 1086: 1071: 1063: 1025: 1024: 1020: 1012: 1008: 1004: 1003: 926: 908:NP_001287913 901: 875: 857:NM_001300984 850: 826: 807: 781: 758: 732: 713: 693: 688: 614:pigmentation 435:ciliary body 335: 328: 55:External IDs 18: 1458:LiveScience 1439:Health News 1305:(1): 1447. 1105:iris stroma 1074:melanocytes 393:skin of arm 294:56,186,266 281:55,889,508 193:28,099,315 180:27,754,875 172:15q12-q13.1 33:Identifiers 2387:Categories 2194:(6): 434. 1486:2008-11-06 1464:2008-11-06 1445:2008-11-06 1441:. NBC News 1363:2014-11-09 1279:2015-03-12 1224:, May 2017 1203:, May 2017 1180:References 339:(ortholog) 76:HomoloGene 2398:Eye color 1170:His615Arg 1163:blue eyes 1136:eye color 1005:P protein 929:NP_068679 904:NP_000266 878:NM_021879 853:NM_000275 679:Orthologs 583:cytoplasm 84:GeneCards 2403:Proteins 2363:12028586 2333:11601658 2304:11179026 2247:10987646 2218:34505863 2210:10671067 2167:10649493 2089:21794972 1894:Genomics 1885:28419032 1768:11310796 1733:27315644 1725:10094567 1680:20221248 1629:22065085 1580:18252222 1523:18172690 1418:30 March 1388:30 March 1357:Orphanet 1337:33664263 1220:– 1199:– 1116:Albinism 1068:Function 1039:tyrosine 977:Wikidata 658:Sources: 578:membrane 377:testicle 2295:1274491 2175:1306686 2132:5762140 2124:9259203 2081:8421497 2061:Bibcode 2044:8302318 2009:6185436 2001:7920637 1971:7874125 1949:7762554 1940:1801108 1914:7601462 1877:1773534 1848:5800811 1840:1509264 1820:Bibcode 1812:Science 1803:1415228 1794:1682821 1671:2832666 1620:3325407 1571:2427173 1531:9886658 1328:7933363 1307:Bibcode 1222:Ensembl 1201:Ensembl 1101:melanin 1078:melanin 1043:melanin 1017:protein 1015:, is a 795:UniProt 746:Ensembl 685:Species 664:QuickGO 314:pattern 40:Aliases 2361:  2331:  2302:  2292:  2245:  2216:  2208:  2173:  2165:  2130:  2122:  2087:  2079:  2053:Nature 2042:  2007:  1999:  1969:  1947:  1937:  1912:  1883:  1875:  1846:  1838:  1801:  1791:  1766:  1731:  1723:  1678:  1668:  1627:  1617:  1578:  1568:  1529:  1521:  1335:  1325:  1173:allele 1134:, and 1095:, and 963:search 961:PubMed 828:Q62052 809:Q04671 701:Entrez 485:BioGPS 64:611409 2214:S2CID 2171:S2CID 2128:S2CID 2085:S2CID 2005:S2CID 1881:S2CID 1844:S2CID 1729:S2CID 1527:S2CID 1159:HERC2 734:18431 694:Mouse 689:Human 660:Amigo 397:vulva 389:sperm 337:Mouse 330:Human 277:Start 212:Mouse 176:Start 109:Human 80:37281 72:97454 2359:PMID 2329:PMID 2300:PMID 2261:link 2243:PMID 2206:PMID 2163:PMID 2120:PMID 2077:PMID 2040:PMID 1997:PMID 1967:PMID 1945:PMID 1910:PMID 1873:PMID 1836:PMID 1799:PMID 1764:PMID 1721:PMID 1676:PMID 1625:PMID 1576:PMID 1519:PMID 1476:News 1420:2013 1390:2013 1333:PMID 1168:The 1132:skin 1128:hair 1097:hair 1093:eyes 1089:skin 1031:gene 1026:OCA2 715:4948 423:iris 320:Bgee 268:Band 229:Chr. 167:Band 126:Chr. 88:OCA2 60:OMIM 47:OCA2 24:OCA2 2351:doi 2321:doi 2290:PMC 2282:doi 2235:doi 2231:105 2196:doi 2153:doi 2110:doi 2069:doi 2057:361 2030:doi 2026:330 1989:doi 1935:PMC 1902:doi 1865:doi 1828:doi 1816:257 1789:PMC 1754:doi 1711:doi 1666:PMC 1656:doi 1615:PMC 1607:doi 1603:131 1566:PMC 1558:doi 1511:doi 1507:123 1323:PMC 1315:doi 1011:or 290:End 189:End 92:OMA 68:MGI 2389:: 2357:. 2347:15 2345:. 2327:. 2317:14 2315:. 2298:. 2288:. 2278:68 2276:. 2272:. 2257:}} 2253:{{ 2229:. 2212:. 2204:. 2192:12 2190:. 2186:. 2169:. 2161:. 2149:15 2147:. 2143:. 2126:. 2118:. 2106:10 2104:. 2100:. 2083:. 2075:. 2067:. 2055:. 2038:. 2024:. 2020:. 2003:. 1995:. 1983:. 1961:. 1943:. 1931:56 1929:. 1925:. 1908:. 1898:26 1896:. 1879:. 1871:. 1861:40 1859:. 1842:. 1834:. 1826:. 1814:. 1797:. 1785:51 1783:. 1779:. 1762:. 1750:14 1748:. 1744:. 1727:. 1719:. 1707:13 1705:. 1701:. 1674:. 1664:. 1650:. 1646:. 1623:. 1613:. 1601:. 1597:. 1574:. 1564:. 1554:82 1552:. 1548:. 1525:. 1517:. 1505:. 1474:. 1469:; 1456:. 1450:; 1437:. 1406:. 1380:. 1354:. 1331:. 1321:. 1313:. 1303:12 1301:. 1297:. 1265:^ 1255:. 1237:. 1208:^ 1187:^ 1138:. 1130:, 1091:, 1029:) 662:/ 296:bp 283:bp 195:bp 182:bp 90:; 86:: 82:; 78:: 74:; 70:: 66:; 62:: 2365:. 2353:: 2335:. 2323:: 2306:. 2284:: 2263:) 2249:. 2237:: 2220:. 2198:: 2177:. 2155:: 2134:. 2112:: 2091:. 2071:: 2063:: 2046:. 2032:: 2011:. 1991:: 1985:7 1973:. 1963:3 1951:. 1916:. 1904:: 1887:. 1867:: 1850:. 1830:: 1822:: 1805:. 1770:. 1756:: 1735:. 1713:: 1682:. 1658:: 1652:6 1631:. 1609:: 1582:. 1560:: 1533:. 1513:: 1489:. 1467:. 1448:. 1422:. 1392:. 1366:. 1339:. 1317:: 1309:: 1282:. 1259:. 1241:. 1023:( 214:) 111:) 94::

Index

Aliases
OCA2
OMIM
611409
MGI
97454
HomoloGene
37281
GeneCards
OCA2
OMA
OCA2 - orthologs
Human
Chromosome 15 (human)
Chr.
Chromosome 15 (human)
Chromosome 15 (human)
Genomic location for OCA2
Genomic location for OCA2
Band
bp
bp
Mouse
Chromosome 7 (mouse)
Chr.
Chromosome 7 (mouse)
Genomic location for OCA2
Genomic location for OCA2
Band
bp

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