OCA2

OCA2
Identifiers
Aliases	OCA2, BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, OCA2 melanosomal transmembrane protein
External IDs	MGI: 97454 HomoloGene: 37281 GeneCards: OCA2
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 proliferation • transmembrane transport • spermatid development • transport • melanocyte differentiation • tyrosine transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4948	18431
Ensembl	n/a	ENSMUSG00000030450
UniProt	Q04671	Q62052
RefSeq (mRNA)	NM_000275 NM_001300984	NM_021879
RefSeq (protein)	NP_000266 NP_001287913	NP_068679.1 NP_068679
Location (UCSC)	Chr 15: 27.75 – 28.1 Mb	Chr 7: 56.24 – 56.54 Mb
PubMed search

4948

18431

n/a

ENSMUSG00000030450

Q04671

Q62052

NM_000275
NM_001300984

NM_021879

NP_000266
NP_001287913

NP_068679.1
NP_068679

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 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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