InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OCA2

Summary

InnateDB Protein

IDBP-4431.7

Last Modified

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

Gene Symbol

OCA2

Protein Name

oculocutaneous albinism II

Synonyms

BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000261276

InnateDB Gene

IDBG-4427 (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 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:0000269PubMed:11310796, ECO:0000269PubMed:15262401, ECO:0000269PubMed:18252222, ECO:0000269PubMed:22234890, ECO:0000269PubMed:7601462}.

Subcellular Localization

Melanosome membrane {ECO:0000269PubMed:7601462}; Multi-pass membrane protein {ECO:0000269PubMed:7601462}.

Disease Associations

Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. {ECO:0000269PubMed:10649493, ECO:0000269PubMed:10671067, ECO:0000269PubMed:10987646, ECO:0000269PubMed:12713581, ECO:0000269PubMed:12727022, ECO:0000269PubMed:12876664, ECO:0000269PubMed:17385796, ECO:0000269PubMed:7762554, ECO:0000269PubMed:7874125, ECO:0000269PubMed:9259203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0015700	arsenite transport
GO:0015828	tyrosine transport
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