full name
OCA2 melanosomal transmembrane protein

synonyms
BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, OCA2, ENSG00000104044

HGNC
HGNC:8101

Entrez Gene
Gene:4948

ENSEMBL
ENSG00000104044

location
chr: 15
start: 28000021
stop: 28344483
strand: -

OMIM
OMIM:611409: OCA2 (Autosomal recessive inheritance)
OMIM:203200: Albinism, brown oculocutaneous
OMIM:203200: Albinism, oculocutaneous, type II
OMIM:227220: [Skin/hair/eye pigmentation 1, blond/brown hair]
OMIM:227220: [Skin/hair/eye pigmentation 1, blue/nonblue eyes]

transcripts
NM_000275.2

pathways
Melanin biosynthesis [NCBI:1270185] [REACTOME:R-HSA-5662702] [PUBMED:18435614] [PUBMED:23710556]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]