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Gene information for OCA2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4948
Official gene symbolOCA2
Full nameoculocutaneous albinism II
Aliases,BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1,
Gene summaryThis gene encodes the human homologue 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 - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq]
LocationChromosome: 15   Locus: 15q11.2-q12
Gene position28344458 - 28000021  Map Viewer
Gene orientationminus
Gene size344438 bp
Gene sequence
OMIM ID611409