OCA2

Description		OCA2 melanosomal transmembrane protein
Image		No pdb structure
GO Annotations	Cellular Component	Lysosomal Membrane Endoplasmic Reticulum Membrane Endosome Membrane Membrane Melanosome Membrane
	Molecular Function	Chloride Channel Activity Protein Binding
	Biological Process	Melanin Biosynthetic Process From Tyrosine Spermatid Development Cell Population Proliferation Melanocyte Differentiation Lysosomal Lumen PH Elevation Melanin Biosynthetic Process Pigmentation Developmental Pigmentation Transmembrane Transport Chloride 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 ( 34127677) Cataracts (operation) ( 31816047) Central retinal arteriolar equivalent ( 26567291) Central retinal vein equivalent ( 26567291) Cutaneous malignant melanoma ( 26237428) Cutaneous squamous cell carcinoma ( 32041948 27424798) Diisocyanate-induced asthma ( 25918132) Eye color ( 23548203 20585627 30664655 23118974) Eye color (brightness) ( 30664655) Eye color (hue) ( 30664655) Eye color (saturation) ( 30664655) Eye color traits ( 30166351) Facial skin colour (CIELAB index b* value) ( 34648798) Facial skin colour (CIELAB index L* value) ( 34648798) 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 ( 30664655 31315583) Skin pigmentation (conditioned on rs1426654 and rs35397) ( 31315583) Skin pigmentation traits ( 30166351) Skin reflectance (Melanin index) ( 33600456) 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?		Polyamine Transmembrane Transporter Activity Extracellular Vesicle Biogenesis Spermine Transport Extracellular Exosome Biogenesis P-type Ion Transporter Activity Negative Regulation Of Lysosomal Protein Catabolic Process P-type Transmembrane Transporter Activity Regulation Of Autophagosome Size Spermine Transmembrane Transport Cupric Ion Binding ABC-type Polyamine Transporter Activity Polyamine Transmembrane Transport Regulation Of Chaperone-mediated Autophagy Cellular Response To Manganese Ion ATPase-coupled Monoatomic Cation Transmembrane Transporter Activity Regulation Of Lysosomal Protein Catabolic Process Response To Manganese Ion Autophagosome-lysosome Fusion Positive Regulation Of Exosomal Secretion Regulation Of Exosomal Secretion Cellular Response To Zinc Ion Phosphatidic Acid Binding Phosphatidylinositol-3,5-bisphosphate Binding Multivesicular Body Membrane Intracellular Zinc Ion Homeostasis Vesicle Membrane Response To Zinc Ion Multivesicular Body Regulation Of Autophagy Of Mitochondrion Autophagosome Membrane Protein Localization To Lysosome Manganese Ion Binding Intracellular Iron Ion Homeostasis Autophagosome Positive Regulation Of Exocytosis Lysosomal Lumen Protein Localization To Vacuole Organelle Membrane Fusion Autophagosome Organization Vesicle Fusion Transport Vesicle Regulation Of Mitochondrion Organization Lysosomal Transport Negative Regulation Of Protein Catabolic Process Organelle Fusion Regulation Of Intracellular Protein Transport Late Endosome Membrane Late Endosome Membrane Fusion Regulation Of Protein Localization To Nucleus
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