Description: Homo sapiens oculocutaneous albinism II (OCA2), mRNA. RefSeq Summary (NM_000275): 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]. Transcript (Including UTRs) Position: hg19 chr15:28,000,023-28,344,458 Size: 344,436 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr15:28,000,534-28,327,020 Size: 326,487 Coding Exon Count: 22
Black vs blond hair color Han ,et al. 2008, A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation, PLoS genetics 2008 4- 5 : e1000074.
[PubMed 18483556]
Black vs red hair color Han ,et al. 2008, A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation, PLoS genetics 2008 4- 5 : e1000074.
[PubMed 18483556]
Blond vs brown hair color Sulem ,et al. 2007, Genetic determinants of hair, eye and skin pigmentation in Europeans, Nature genetics 2007 39- 12 : 1443-52.
[PubMed 17952075]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q04671-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
