OCA2 | OmnibusX

Name	Number of supported studies	Average coverage
retinal pigment epithelial cell	3 studies	36% ± 18%	Explore
GABAergic neuron	3 studies	36% ± 7%	Explore
glutamatergic neuron	3 studies	48% ± 14%	Explore

Name	Number of supported studies	Average coverage
brain	3 studies	39% ± 12%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
thymus	99%	728.37	647 / 653	47%	2.96	287 / 605
skin	72%	410.52	1300 / 1809	59%	46.85	280 / 472
eye	0%	0	0 / 0	100%	185.00	80 / 80
ovary	31%	34.42	55 / 180	69%	2.57	296 / 430
blood vessel	96%	603.47	1285 / 1335	0%	0	0 / 0
lung	59%	84.20	341 / 578	32%	2.72	372 / 1155
esophagus	46%	128.10	667 / 1445	31%	2.04	56 / 183
brain	55%	167.02	1443 / 2642	12%	0.57	87 / 705
prostate	54%	97.33	132 / 245	12%	0.29	60 / 502
uterus	20%	39.24	34 / 170	38%	3.07	176 / 459
tonsil	0%	0	0 / 0	53%	5.26	24 / 45
lymph node	0%	0	0 / 0	52%	1.12	15 / 29
kidney	11%	9.70	10 / 89	37%	1.79	336 / 901
spleen	45%	47.46	109 / 241	0%	0	0 / 0
breast	28%	33.42	128 / 459	14%	0.95	151 / 1118
intestine	5%	5.38	49 / 966	32%	1.37	168 / 527
bladder	19%	22.10	4 / 21	17%	0.89	85 / 504
stomach	4%	3.38	13 / 359	31%	1.35	88 / 286
liver	0%	0.32	1 / 226	25%	3.31	102 / 406
adipose	25%	35.46	301 / 1204	0%	0	0 / 0
pancreas	0%	0.37	1 / 328	17%	0.84	31 / 178
heart	8%	6.98	70 / 861	0%	0	0 / 0
adrenal gland	0%	0	0 / 258	6%	0.25	13 / 230
muscle	3%	2.99	22 / 803	0%	0	0 / 0
peripheral blood	0%	0.12	1 / 929	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0
ureter	0%	0	0 / 0	0%	0	0 / 1

GO_0030318	Biological process	melanocyte differentiation
GO_1902476	Biological process	chloride transmembrane transport
GO_0042438	Biological process	melanin biosynthetic process
GO_0008283	Biological process	cell population proliferation
GO_0006583	Biological process	melanin biosynthetic process from tyrosine
GO_0007286	Biological process	spermatid development
GO_0035752	Biological process	lysosomal lumen pH elevation
GO_0010008	Cellular component	endosome membrane
GO_0033162	Cellular component	melanosome membrane
GO_0005765	Cellular component	lysosomal membrane
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_0005515	Molecular function	protein binding
GO_0005254	Molecular function	chloride channel activity

Gene name	OCA2
Protein name	OCA2 melanosomal transmembrane protein (P protein) P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog) P protein
Synonyms	D15S12 P
Description	FUNCTION: Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation . One of the components of the mammalian pigmentary system . May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color . Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity). .
Accessions	A0A0G2JPT4 A0A0J9YWU3 ENST00000431101.1 ENST00000632880.1 A0A0J9YXL8 Q04671 ENST00000619392.1 ENST00000353809.9 [Q04671-2] ENST00000631387.1 ENST00000632166.1 ENST00000354638.8 [Q04671-1] C9JLG9 ENST00000445578.5 ENST00000633787.1 C9JDV3

OCA2 report