OCA2
entrez
4948
canonical
uniprot
Q04671
canonical
ensembl
ENSG00000104044
resolver
ensp
ENSP00000261276
resolver
ensp
ENSP00000346659
resolver
ensp
ENSP00000580178
resolver
ensp
ENSP00000613999
resolver
ensp
ENSP00000614000
resolver
genesymbol
OCA2
resolver
genesymbol_syn
D15S12
resolver
genesymbol_syn
P
resolver
hgnc
HGNC:8101
resolver
uniprot
Q15211
resolver
uniprot
Q15212
resolver
uniprot
Q96EN1
resolver
uniprot
Q9UMI5
resolver
uniprot_entry
P_HUMAN
resolver
uniprot_sec
Q15211
resolver
uniprot_sec
Q15212
resolver
uniprot_sec
Q96EN1
resolver
uniprot_sec
Q9UMI5
resolver
amino_acid_sequence
MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGSLAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10094567, ECO:0000269|PubMed:10649493, ECO:0000269|PubMed:10671067, ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:12713581, ECO:0000269|PubMed:12727022, ECO:0000269|PubMed:12876664, ECO:0000269|PubMed:17385796, ECO:0000269|PubMed:23504663, ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:7762554, ECO:0000269|PubMed:7874125, ECO:0000269|PubMed:9259203}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513726). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMed:15262401, PubMed:18252222, PubMed:7601462). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity). {ECO:0000250|UniProtKB:Q62052, ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890, ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:7601462}.
uniprot
proteins
mass_dalton
92850
uniprot
proteins
protein_family
CitM (TC 2.A.11) transporter family
uniprot
proteins
pubmed
10094567
uniprot
proteins
pubmed
10649493
uniprot
proteins
pubmed
10671067
uniprot
proteins
pubmed
10987646
uniprot
proteins
pubmed
11310796
uniprot
proteins
pubmed
11601658
uniprot
proteins
pubmed
12163334
uniprot
proteins
pubmed
12713581
uniprot
proteins
pubmed
12727022
uniprot
proteins
pubmed
12876664
uniprot
proteins
pubmed
1509264
uniprot
proteins
pubmed
15262401
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15889046
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17236130
uniprot
proteins
pubmed
17385796
uniprot
proteins
pubmed
17952075
uniprot
proteins
pubmed
18172690
uniprot
proteins
pubmed
18252221
uniprot
proteins
pubmed
18252222
uniprot
proteins
pubmed
22234890
uniprot
proteins
pubmed
23504663
uniprot
proteins
pubmed
25513726
uniprot
proteins
pubmed
32966160
uniprot
proteins
pubmed
7601462
uniprot
proteins
pubmed
7762554
uniprot
proteins
pubmed
7874125
uniprot
proteins
pubmed
8421497
uniprot
proteins
pubmed
9259203
uniprot
proteins
sequence_length
838
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:7601462}; Multi-pass membrane protein {ECO:0000269|PubMed:7601462}.
uniprot
proteins
transmembrane_region
TRANSMEM 180..197; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 331..347; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 354..370; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 385..401; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 424..440; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 514..530; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 621..637; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 648..664; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 680..696; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 721..737; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 761..777; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 818..834; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins