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Tbio
OCA2
P protein

Protein Classes
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


Related Tools
RESOLUTE
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 382   (req: < 5)
Gene RIFs: 61   (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: 382   (req: >= 5)
Gene RIFs: 61   (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
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hair color
4
12
2
1.3
98.8
suntan
1
1
1
82.8
2
2
0
1.3
81.6
retinal vasculature measurement
2
1
2
75.4
cutaneous squamous cell carcinoma
2
1
1
1.2
74.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hair color
2
1.3
98.8
suntan
1
82.8
0
1.3
81.6
retinal vasculature measurement
2
75.4
cutaneous squamous cell carcinoma
1
1.2
74.7
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
OCA2 melanosomal transmembrane protein
VGNC:6584
453261
Macaque
OCA2 melanosomal transmembrane protein
712220
Mouse
MGI:97454
18431
Rat
RGD:2318412
100365773
Dog
OCA2 melanosomal transmembrane protein
488683
Species
Name
OMA
EggNOG
Inparanoid
Chimp
OCA2 melanosomal transmembrane protein
Macaque
OCA2 melanosomal transmembrane protein
Mouse
Rat
Dog
OCA2 melanosomal transmembrane protein
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q04671-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (4)
Melanin biosynthesis (R-HSA-5662702)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Melanin biosynthesis
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Melanin biosynthesis
Metabolism
Metabolism of amino acids and derivatives
Protein-Protein Interactions (110)
1 – 10 of 110
HTR3A
Tclin
Family: IC
Novelty: 0.00217443
p_int: 0.999998577
p_ni: 0.00000123
p_wrong: 1.93e-7
Score: 0.186
Data Source: BioPlex,STRINGDB
CHRND
Tclin
Family: IC
Novelty: 0.0441685
p_int: 0.997243958
p_ni: 0.000004277
p_wrong: 0.002751765
Data Source: BioPlex
TYR
Tclin
Family: Enzyme
Novelty: 0.00048513
Score: 0.934
Data Source: STRINGDB
SLC24A5
Tbio
Family: Transporter
Novelty: 0.01224635
Score: 0.93
Data Source: STRINGDB
SLC45A2
Tbio
Family: Transporter
Novelty: 0.00268252
Score: 0.93
Data Source: STRINGDB
TYRP1
Tbio
Family: Enzyme
Novelty: 0.00062138
Score: 0.856
Data Source: STRINGDB
MC1R
Tclin
Family: GPCR
Novelty: 0.0009857
Score: 0.825
Data Source: STRINGDB
AMT
Tbio
Family: Enzyme
Novelty: 0.00796968
Score: 0.806
Data Source: STRINGDB
GLDC
Tbio
Family: Enzyme
Novelty: 0.00900467
Score: 0.806
Data Source: STRINGDB
GCSH
Tbio
Novelty: 0.02101972
Score: 0.767
Data Source: STRINGDB
Publication Statistics
PubMed Score  382.00

PubMed score by year
PubTator Score  374.3

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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