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Tbio
OCA2
P protein

Protein Summary
Description
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. 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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000353809
  • ENSP00000261276
  • ENSG00000104044
  • ENST00000354638
  • ENSP00000346659

Symbol
  • D15S12
  • P
  • P
  • BEY
  • PED
  • BEY1
  • BEY2
  • BOCA
  • EYCL
  • HCL3
  • EYCL2
  • EYCL3
  • SHEP1
  • D15S12
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
phenotype
0.79
disease
0.75
gene perturbation
0.71
cellular component
0.64
biological term
0.63


Protein Classes
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 464.81   (req: < 5)
Gene RIFs: 74   (req: <= 3)
Antibodies: 174   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 464.81   (req: >= 5)
Gene RIFs: 74   (req: > 3)
Antibodies: 174   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0