InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Oca2

Summary

InnateDB Protein

IDBP-190097.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Oca2

Protein Name

oculocutaneous albinism II

Synonyms

D7H15S12; D7Icr28RN; D7Nic1; p;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000032633

InnateDB Gene

IDBG-190095 (Oca2)

Protein Structure

UniProt Annotation

Function

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 postranslational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. It can modulate intracellular glutathione metabolism. {ECO:0000269PubMed:11310796}.

Subcellular Localization

Melanosome membrane {ECO:0000269PubMed:7991586}; Multi-pass membrane protein {ECO:0000269PubMed:7991586}.

Disease Associations

Note=Defects in Oca2 are a cause of hypopigmentation of the eyes, skin, and fur. The protein is missing or altered in six independent mutant alleles of the OCA2 locus, suggesting that disruption of this gene results in hypopigmentation phenotype that defines mutant OCA2 alleles. {ECO:0000269PubMed:1509264}.

Tissue Specificity

Most abundant in melanocytes. Also present in neonatal and adult eye tissue presumably as a result of expression in the retinal pigmented epithelium and choroid body, known sites of melanogenesis in the eye. Small but detectable amounts also observed in fetal, neonatal and adult brain. Moderate amounts detected in adult testis and ovary. Not detected in heart, kidney, spleen, liver or thymus. {ECO:0000269PubMed:1509264}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0015105	arsenite transmembrane transporter activity

Biological Process

GO:0006814	sodium ion transport
GO:0007286	spermatid development
GO:0008283	cell proliferation
GO:0015700	arsenite transport
GO:0030318	melanocyte differentiation
GO:0042438	melanin biosynthetic process
GO:0043473	pigmentation
GO:0048066	developmental pigmentation
GO:0055085	transmembrane transport

Cellular Component

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