OPN1MW (opsin 1, medium wave sensitive)

Gene

• Entrez ID: 2652
• Gene name: Opsin 1, medium wave sensitive
• Gene symbol: OPN1MW
• Synonyms (NCBI Gene): CBBM, CBD, COD5, GCP, GOP, OPN1MW1
• Disease Acronyms (UniProt): CBD, COD5
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-term

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017886	hsa-miR-335-5p	Microarray	18185580
MIRT1204408	hsa-miR-4434	CLIP-seq
MIRT1204409	hsa-miR-4516	CLIP-seq
MIRT1204410	hsa-miR-4531	CLIP-seq
MIRT1204411	hsa-miR-4534	CLIP-seq
MIRT1204412	hsa-miR-4729	CLIP-seq
MIRT1204413	hsa-miR-5095	CLIP-seq
MIRT2058977	hsa-miR-1200	CLIP-seq
MIRT2058978	hsa-miR-1297	CLIP-seq
MIRT2058979	hsa-miR-26a	CLIP-seq
MIRT2058980	hsa-miR-26b	CLIP-seq
MIRT2058981	hsa-miR-4324	CLIP-seq
MIRT2058982	hsa-miR-4465	CLIP-seq
MIRT2058983	hsa-miR-544b	CLIP-seq
MIRT2058984	hsa-miR-937	CLIP-seq
MIRT2287071	hsa-miR-3064-3p	CLIP-seq
MIRT2287072	hsa-miR-3182	CLIP-seq
MIRT2287073	hsa-miR-4494	CLIP-seq
MIRT2287074	hsa-miR-4634	CLIP-seq
MIRT2287075	hsa-miR-4652-3p	CLIP-seq
MIRT2287076	hsa-miR-4722-3p	CLIP-seq
MIRT2287077	hsa-miR-4783-5p	CLIP-seq
MIRT2391912	hsa-miR-1224-3p	CLIP-seq
MIRT2287072	hsa-miR-3182	CLIP-seq
MIRT2391913	hsa-miR-342-3p	CLIP-seq
MIRT2287075	hsa-miR-4652-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001750	Component	Photoreceptor outer segment	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	20579627
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IBA	21873635
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA	21873635
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IMP	8185948
GO:0018298	Process	Protein-chromophore linkage	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0042802	Function	Identical protein binding	IDA	28402104
GO:0071482	Process	Cellular response to light stimulus	IBA	21873635
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 300821
• HGNC: 4206
• e!Ensembl: ENSG00000268221

Pathways

Reactome:

The retinoid cycle in cones (daylight vision)
Retinoid cycle disease events
G alpha (i) signalling events
Opsins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cone dystrophy, x-linked	CONE DYSTROPHY 5, X-LINKED	rs267606927
Cone monochromatism	Cone monochromatism	rs104894912, rs121434621, rs104894914	20579627, 8666378, 15069569
Cone-rod dystrophy	Cone-Rod Dystrophy 2, Cone rod dystrophy	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749	20579627
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Deuteranomaly	Deuteranomaly	rs104894914, rs104894916, rs724159983, rs104894915	12051694, 1302020
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Blue Cone Monochromacy	blue cone monochromacy			GenCC
Cone Dystrophy	cone-rod dystrophy			GenCC
Color Blindness	red-green color blindness			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
beta Thalassemia	Associate	11074564
Blue cone monochromatism	Associate	25909963, 26153062, 27339364, 29940872, 30065301, 33344057, 34445325, 35743313, 36692456
Bornholm Eye Disease	Associate	35743313
Cardiac Output Low	Inhibit	35759666
Color Vision Defects	Associate	25168334, 35743313
Cone Rod Dystrophy X Linked 2	Associate	27339364, 35743313
Congenital Abnormalities	Associate	25168334
Eye Diseases	Associate	37365340
Myopia	Associate	25168334, 35400991, 35741704, 35743313, 37097228
O'Donnell Pappas syndrome	Associate	34445325
Retinal Cone Dystrophy 1	Associate	35743313
Retinal Degeneration	Associate	25168334
Retinitis	Associate	23139274
Retinoblastoma	Associate	35743313
Vision Disorders	Associate	23139274