P protein

OCA2
Identifiers
Aliases	OCA2, BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, PED, SHEP1, OCA2 melanosomal transmembrane protein, P
External IDs	OMIM: 611409 MGI: 97454 HomoloGene: 37281 GeneCards: OCA2
Gene location (Human)
Chr.	Chromosome 15 (human)
End	28,099,315 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	56,186,266 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; secondary oocyte; ; hair follicle; ; sperm; ; vulva; ; human penis; ; epithelium of esophagus; ; nipple; ; popliteal artery; ; superior vestibular nucleus;
	Top expressed in
	iris; ; retinal pigment epithelium; ; ciliary body; ; hair follicle; ; barrel cortex; ; corneal stroma; ; adrenal gland; ; lateral ventricle; ; visual cortex; ; right ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transporter activity; L-tyrosine transmembrane transporter activity; protein binding;
Cellular component	endoplasmic reticulum membrane; lysosomal membrane; endosome membrane; membrane; cytoplasm; melanosome membrane; integral component of membrane;
Biological process	eye pigment biosynthetic process; pigmentation; developmental pigmentation; melanin biosynthetic process; cell population proliferation; transmembrane transport; spermatid development; melanocyte differentiation; tyrosine transport;
	Sources:Amigo / QuickGO
Orthologs
	4948
	18431
	ENSG00000104044; ENSG00000277361
	ENSMUSG00000030450
	Q04671
	Q62052
	NM_000275; NM_001300984
	NM_021879
	NP_000266; NP_001287913
	NP_068679
	Wikidata
View/Edit Human	View/Edit Mouse

P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine—a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene.

The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.

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