OCA2

• Official Symbol: OCA2
• Official Name: OCA2 melanosomal transmembrane protein
• Aliases and Previous Symbols: N/A
• Entrez ID: 4948
• UniProt: Q04671
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez 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].
• UniProt Summary: 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}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 3871
• Expression level (log2 read counts): -3.28

Expression Distribution

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OCA2 Expression in NALM6 Cells: -3.28