OCA2

Gene Name		oculocutaneous albinism II
Image		No pdb structure
Gene Ontology 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 Proliferation Tyrosine Transport Melanocyte Differentiation Melanin Biosynthetic Process Transmembrane Transport
Pathways
Drugs
Diseases
GWAS		Black vs. blond hair color ( 18483556) Black vs. red hair color ( 18483556) Blond vs. brown hair color ( 17952075) Blue vs. brown eyes ( 17952075) Blue vs. green eyes ( 17952075) Eye color ( 23548203 23118974 20585627) Hair color ( 20585627) Parkinson's disease (age of onset) ( 19772629) Vitiligo ( 22561518)
Protein-protein Interactions		1 interactors: ATP13A2
Entrez ID		4948
HPRD ID		01945
Ensembl ID		ENSG00000104044
Uniprot IDs		Q04671
PDB IDs
Enriched GO Terms of Interacting Partners?		Cellular Response To Manganese Ion Response To Manganese Ion Cellular Response To Metal Ion Cellular Response To Inorganic Substance Response To Metal Ion
Tagcloud ?		albinism bloc colocalize confocal constituents disrupt disrupted encoded hair hypopigmentation lamp2 localizations matp melanogenic melanosomal melanosomes misrouting oca4 oculocutaneous organelles pigmentation severely slc45a2 sorting subcellular trafficking transporters tyrosinase