Gene Name	OCA2
Gene ID	4948
Gene Full Name	OCA2 melanosomal transmembrane protein
Gene Alias	BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1|SLC13B1
Transcripts	ENSG00000104044
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Plasma membrane;Cytosol;
Membrane Info	Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Uniport_ID	Q04671
HGNC ID	HGNC:8101
OMIM ID	611409
Summary	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
5010155	chr15	12	1	0	13	View
5011803	chr15	9	0	0	9	View
5016681	chr15	10	0	0	10	View

Data ID	Experiment type	Sample number	Platform
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
E   GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
M   TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• Expression profiling
• Methylation profiling
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.

> Dataset: GSE55542 - OCA2 expression across samples

Volcano Plot

Bar Plot