OCA2

Description		OCA2 melanosomal transmembrane protein
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Lysosomal Membrane Endoplasmic Reticulum Membrane Endosome Membrane Integral Component Of Membrane Melanosome Membrane
	Molecular Function	Transporter Activity L-tyrosine Transmembrane Transporter Activity Protein Binding
	Biological Process	Eye Pigment Biosynthetic Process Spermatid Development Cell Population Proliferation Tyrosine Transport Melanocyte Differentiation Melanin Biosynthetic Process Transmembrane Transport
Pathways		Melanin biosynthesis
Drugs
Diseases		Oculocutaneous albinism (OCA)
GWAS		Attention deficit hyperactivity disorder ( 30563984) Basal cell carcinoma ( 27539887) Black vs. blond hair color ( 18483556) Black vs. red hair color ( 18483556) Blond vs non-blond hair color ( 26184321) Blond vs. brown hair color ( 17952075) Blond vs. brown/black hair color ( 30531825) Blue vs. brown eyes ( 17952075) Blue vs. green eyes ( 17952075) Brown vs. black hair color ( 30531825) Brown vs. non-brown hair color ( 26184321) Cataracts (operation) ( 31816047) Central retinal arteriolar equivalent ( 26567291) Central retinal vein equivalent ( 26567291) Cutaneous malignant melanoma ( 26237428) Cutaneous squamous cell carcinoma ( 27424798 32041948) Diisocyanate-induced asthma ( 25918132) Eye color ( 23548203 23118974 20585627 30664655) Eye color (brightness) ( 30664655) Eye color (hue) ( 30664655) Eye color (saturation) ( 30664655) Eye color traits ( 30166351) Hair color ( 20585627 26926045) Iris color (a* coordinate) ( 29109912) Iris color (b* coordinate) ( 29109912) Iris color (L* coordinate) ( 29109912) Light vs. dark hair color ( 26184321) Low tan response ( 29739929) Macular thickness ( 30535121) Melanoma ( 28212542) Parkinson's disease (age of onset) ( 19772629) Post bronchodilator FEV1/FVC ratio ( 26634245) Red vs non-red hair color ( 26184321) Refractive error ( 32231278) Skin colour saturation ( 25963972) Skin pigmentation ( 31315583 30664655) Skin pigmentation (conditioned on rs1426654 and rs35397) ( 31315583) Skin pigmentation traits ( 30166351) Skin, hair and eye pigmentation (multivariate analysis) ( 30664655) Squamous cell carcinoma ( 26829030) Uveal melanoma ( 28781888) Vitiligo ( 27723757 22561518)
Interacting Genes		1 interacting genes: ATP13A2
Entrez ID		4948
HPRD ID		01945
Ensembl ID		ENSG00000104044
Uniprot IDs		Q04671
PDB IDs
Enriched GO Terms of Interacting Partners?
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