Version 5.4
Homo sapiens Gene: OCA2
Summary
InnateDB Gene IDBG-4427.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OCA2
Gene Name oculocutaneous albinism II
Synonyms BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1
Species Homo sapiens
Ensembl Gene ENSG00000104044
Encoded Proteins
IDBP-4429
oculocutaneous albinism II
IDBP-4431
oculocutaneous albinism II
IDBP-362323
oculocutaneous albinism II
IDBP-362325
oculocutaneous albinism II
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This 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, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:27754875-28099358
Strand Reverse strand
Band q13.1
Transcripts
ENST00000354638 ENSP00000346659
ENST00000353809 ENSP00000261276
ENST00000445578 ENSP00000414425
ENST00000431101 ENSP00000415431
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005302 L-tyrosine transmembrane transporter activity
GO:0005515 protein binding
GO:0015105 arsenite transmembrane transporter activity
Biological Process
GO:0006726 eye pigment biosynthetic process
GO:0006814 sodium ion transport
GO:0007286 spermatid development
GO:0008283 cell proliferation
GO:0015700 arsenite transport
GO:0015828 tyrosine transport
GO:0030318 melanocyte differentiation
GO:0042438 melanin biosynthetic process
GO:0043473 pigmentation
GO:0048066 developmental pigmentation
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030450
View Gene Order
ENSBTAG00000009831
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654411
RefSeq NM_000275 NM_001300984 XM_005268259
HUGO
OMIM
CCDS CCDS10020 CCDS73701
HPRD 01945
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca