Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Pathways Associated diseases
Entrez ID	2652
Gene name	Opsin 1, medium wave sensitive
Gene symbol	OPN1MW
Synonyms (NCBI Gene)	CBBMCBDCOD5GCPGOPOPN1MW1
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

Show/Hide all (26)

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

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20579627
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2937147
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	2937147
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10319869
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0009881	Function	Photoreceptor activity	IMP	8185948
GO:0009881	Function	Photoreceptor activity	TAS	1302020
GO:0016020	Component	Membrane	IEA
GO:0016038	Process	Absorption of visible light	IBA
GO:0032467	Process	Positive regulation of cytokinesis	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
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
300821	4206	ENSG00000268221

Interactions View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Achromatopsia	Pathogenic	rs2148787747	RCV001591809	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy 5, X-linked	Pathogenic	rs267606927	RCV000011259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone monochromatism	Pathogenic	rs104894914	RCV000011257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deuteranomaly	Pathogenic	rs104894914, rs104894916, rs724159983, rs104894915	RCV004566719 RCV000011255 RCV000011256 RCV000011258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BLUE CONE MONOCHROMACY	—	GenCC, HPO GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLUE CONE MONOCHROMATISM	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR BLINDNESS, RED-GREEN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORBLINDNESS, PARTIAL, DEUTAN SERIES	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CONE DYSFUNCTION SYNDROME WITH MYOPIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
beta Thalassemia	Associate	11074564	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blue cone monochromatism	Associate	25909963, 26153062, 27339364, 29940872, 30065301, 33344057, 34445325, 35743313, 36692456	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bornholm Eye Disease	Associate	35743313	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Output Low	Inhibit	35759666	★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Associate	25168334, 35743313	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Rod Dystrophy X Linked 2	Associate	27339364, 35743313	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Associate	25168334	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Associate	37365340	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Associate	25168334, 35400991, 35741704, 35743313, 37097228	★★★★★ ★☆☆☆☆ Found in Text Mining only
O'Donnell Pappas syndrome	Associate	34445325	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Cone Dystrophy 1	Associate	35743313	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Associate	25168334	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis	Associate	23139274	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	35743313	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Associate	23139274	★★★★★ ★☆☆☆☆ Found in Text Mining only

OPN1MW (opsin 1, medium wave sensitive)