Oca2
entrez
18431
canonical
uniprot
Q62052
canonical
ensembl
ENSMUSG00000030450
resolver
ensp
ENSMUSP00000032633
resolver
ensp
ENSMUSP00000283624
resolver
ensp
ENSMUSP00000283627
resolver
enst
ENSMUST00000032633
resolver
genesymbol
Oca2
resolver
genesymbol_syn
P
resolver
uniprot
Q0VBP9
resolver
uniprot_entry
P_MOUSE
resolver
uniprot_sec
Q0VBP9
resolver
amino_acid_sequence
MRLENKDIRLASAVLEVELHQTSALSVPTCPDPGRLLTVKPATSNYKLGQADPCIPYAGEAAGKSVCVPEHTEFGSFLVKGSSSLKDLSFKEDTPLLWNSSQKKRSQLMPVHHPEFIATEGSWENGLTAWEQKCMLGKEVADLSALASSEKRDLAGSVHLRAQVSKLGCCVRWIKITGLFVFVVLCSILFSLYPDQGKFWQLLAVSPLENYSVNLSGHADSMILQLDLAGALMAGGPSGSGKEEHVVVVVTQTDAAGNRRRRPQQLTYNWTVLLNPRSEHVVVSRTFEIVSREAVSISIQASLQQTRLVPLLLAHQFLGASVEAQVASAVAILAGVYTLIIFEIVHRTLAAMLGALAALAALAVVGDRPSLTHVVEWIDFETLALLFGMMILVAVFSETGFFDYCAVKAYQLSRGRVWAMIFMLCLMAAILSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFLGICLVLLVSFPLLRLLYWNKKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRGLLLEKVLALEHLLAQRLHTFHRQISQEDKNWETNIQELQRKHRISDRSLLVKCLTVLGFVISMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEALTHLHLVEYVGEQTALLIKMVPEDQRFAAAIVLIVWVSALASSLIDNIPFTATMIPVLLNLSQDPEISLPALPLMYALALGACLGGNGTLIGASTNVVCAGIAEKHGYGFSFMEFFRLGFPVMLMSCTIGMCYLLIAHIVVGWN
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:1509264}.
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. One of the components of the mammalian pigmentary system (By similarity). May serve as a key control point at which color variation is determined. Major determinant of eye color (Probable). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (PubMed:12058062). {ECO:0000250|UniProtKB:Q04671, ECO:0000269|PubMed:12058062, ECO:0000305|PubMed:11310796}.
uniprot
proteins
mass_dalton
91869
uniprot
proteins
protein_family
CitM (TC 2.A.11) transporter family
uniprot
proteins
pubmed
11310796
uniprot
proteins
pubmed
11601658
uniprot
proteins
pubmed
12058062
uniprot
proteins
pubmed
12475946
uniprot
proteins
pubmed
1509264
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
7991586
uniprot
proteins
sequence_length
833
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:7991586}; Multi-pass membrane protein {ECO:0000269|PubMed:7991586}.
uniprot
proteins
transmembrane_region
TRANSMEM 173..193; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 326..346; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 349..369; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 382..402; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 418..438; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 502..522; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 618..638; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 640..660; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 676..696; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 719..739; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 760..780; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 811..831; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins