Entity Details

Primary name OCA2
Entity type gene
Source Source Link

Details

PrimaryID4948
RefseqGeneNG_009846
SymbolOCA2
NameOCA2 melanosomal transmembrane protein
Chromosome15
Location15q12-q13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsP_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005215 transporter activity
GO:0005302 L-tyrosine transmembrane transporter activity
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0006726 eye pigment biosynthetic process
GO:0007286 spermatid development
GO:0008283 cell population proliferation
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0030318 melanocyte differentiation
GO:0033162 melanosome membrane
GO:0042438 melanin biosynthetic process

Diseases

Show/Hide Table
Disease IDSourceNameDescription
203200 OMIMAlbinism, oculocutaneous, 2 (OCA2)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
OCA2ATP13A2BioGRID, IntAct22645275 details
OCA2HTR3ABioGRID, IntAct28514442 details
OCA2CHRNDBioGRID, IntAct28514442 details