OCA2, Official Symbol OCA2provided by HGNC Official Full Name OCA2 melanosomal transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:8101 See related Ensembl:ENSG00000104044 MIM:611409; AllianceGenome:HGNC:8101 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12 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] Expression Biased expression in skin (RPKM 1.8), thyroid (RPKM 1.2) and 8 other tissues See more Orthologs mouse all