ADHDgene Database

Gene Report

Basic Info

Approved Symbol	OCA2
Previous Symbol	D15S12, P, EYCL3, EYCL2
Symbol Alias	BEY2, EYCL, BEY, BEY1
Approved Name	oculocutaneous albinism II
Previous Name	oculocutaneous albinism II (pink-eye dilution (murine) homolog), "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"
Name Alias	melanocyte-specific transporter protein
Location	15q11.2-q12
Position	chr15:28000021-28344504, -
External Links	HGNC: 8101 Entrez Gene: 4948 Ensembl: ENSG00000104044 UCSC: uc001zbh.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_46	chr15:21016722-25902239 (NCBI Build 36.1 (hg18))	4933636	15q11.2-15q13.1	Gain

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
15q11.2-13.3	chr15:20700000-33600000	1 (1/0/0)

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005765	lysosomal membrane	Cellular Component	IDA[19116314]	17
GO:0005737	cytoplasm	Cellular Component	TAS[7601462]	690
GO:0006726	eye pigment biosynthetic process	Biological Process	TAS[8421497]	2
GO:0005789	endoplasmic reticulum membrane	Cellular Component	IDA[19116314]	140
GO:0008283	cell proliferation	Biological Process		60
GO:0007286	spermatid development	Biological Process		11
GO:0015105	arsenite transmembrane transporter activity	Molecular Function		1
GO:0010008	endosome membrane	Cellular Component	IDA[19116314]	27
GO:0005215	transporter activity	Molecular Function	TAS[8421497]	41
GO:0005515	protein binding	Molecular Function	IPI[19116314]	910
GO:0005302	L-tyrosine transmembrane transporter activity	Molecular Function	TAS[7601462]	1
GO:0033162	melanosome membrane	Cellular Component	IDA[19116314]	4
GO:0042438	melanin biosynthetic process	Biological Process		3
GO:0016021	integral to membrane	Cellular Component		845
GO:0030318	melanocyte differentiation	Biological Process		4
GO:0015700	arsenite transport	Biological Process		1
GO:0015828	tyrosine transport	Biological Process	TAS[7601462]	1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with OCA2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
TYR	6	cytoplasm; eye pigment biosynthetic process; cell proliferation; protein binding; melanosome membrane; integral to membrane;
SORT1	5	lysosomal membrane; cytoplasm; endoplasmic reticulum membrane; endosome membrane; integral to membrane;

Genes shared at least 2 KEGG pathways with OCA2 (count: 0)

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Region: chr15:28000021..28344504 View in gBrowse