OPN4 (opsin 4)

Gene

• Entrez ID: 94233
• Gene name: Opsin 4
• Gene symbol: OPN4
• Synonyms (NCBI Gene): MOP
• Chromosome: 10
• Chromosome location: 10q23.2
• Summary: Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglio

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2058988	hsa-miR-185	CLIP-seq
MIRT2058989	hsa-miR-3184	CLIP-seq
MIRT2058990	hsa-miR-3675-5p	CLIP-seq
MIRT2058991	hsa-miR-423-5p	CLIP-seq
MIRT2058992	hsa-miR-4306	CLIP-seq
MIRT2058993	hsa-miR-4644	CLIP-seq
MIRT2585299	hsa-miR-3166	CLIP-seq
MIRT2585300	hsa-miR-3689a-3p	CLIP-seq
MIRT2585301	hsa-miR-3689c	CLIP-seq
MIRT2585302	hsa-miR-4728-5p	CLIP-seq
MIRT2585303	hsa-miR-4795-5p	CLIP-seq
MIRT2585304	hsa-miR-549	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005502	Function	11-cis retinal binding	IDA	15674244
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	31380578, 31730232
GO:0005886	Component	Plasma membrane	IEA
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:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IDA	15674244
GO:0007602	Process	Phototransduction	IEA
GO:0007634	Process	Optokinetic behavior	IEA
GO:0007634	Process	Optokinetic behavior	ISS
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0008020	Function	G protein-coupled photoreceptor activity	IDA	15674244
GO:0008020	Function	G protein-coupled photoreceptor activity	IEA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10632589
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042752	Process	Regulation of circadian rhythm	IBA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043052	Process	Thermotaxis	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050960	Process	Detection of temperature stimulus involved in thermoception	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0071482	Process	Cellular response to light stimulus	IBA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:1990384	Process	Hyaloid vascular plexus regression	IEA
GO:1990384	Process	Hyaloid vascular plexus regression	ISS
GO:1990913	Component	Sperm head plasma membrane	IEA

Other IDs

• MIM: 606665
• HGNC: 14449
• e!Ensembl: ENSG00000122375

Protein

• UniProt ID: Q9UHM6
• Protein name: Melanopsin (Opsin-4)
• Protein function: Photoreceptor that binds cis-retinaldehydes (PubMed:15674244). Contributes to pupillar reflex, photoentrainment and other non-image forming responses to light (By similarity). May be involved in the optokinetic visual tracking response (By simil
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	87 → 350	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina. {ECO:0000269|PubMed:10632589}.
• Sequence:

  MNPPSGPRVPPSPTQEPSCMATPAPPSWWDSSQSSISSLGRLPSISPTAPGTWAAAWVPL
  PTVDVPDHAHYTLGTVILLVGLTGMLGNLTVIYTFCRSRSLRTPANMFIINLAVSDFLMS
  FTQAPVFFTSSLYKQWLFGETGCEFYAFCGALFGISSMITLTAIALDRYLVITRPLATFG
  VASKRRAAFVLLGVWLYALAWSLPPFFGWSAYVPEGLLTSCSWDYMSFTPAVRAYTMLLC
  CFVFFLPLLIIIYCYIFIFRAIRETGRALQTFGACKGNGESLWQRQRLQSECKMAKIMLL
  VILLFVLSWAPYSAVALVAFAGYAHVLTPYMSSVPAVIAKASAIHNPIIYAITHPKYRVA
  IAQHLPCLGVLLGVSRRHSRPYPSYRSTHRSTLTSHTSNLSWISIRRRQESLGSESEVGW
  THMEAAAVWGAAQQANGRSLYGQGLEDLEAKAPPRPQGHEAETPGKTKGLIPSQDPRM

• Sequence length: 478

Pathways

Reactome:

G alpha (q) signalling events
Opsins

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL AFFECTIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27022229		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32096617	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	31509363		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	BEFREE	31621610		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24786234		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36456645	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28955293		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30024618		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30419252		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	28271634		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	29700553	Associate	★☆☆☆☆ Found in Text Mining only
Circadian Rhythm Disorders	Circadian Rhythm Disorders	BEFREE	31261700		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	52973, 6875304, 7426426		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20413378		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20413378		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20413378		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20413378		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30271376		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31042793		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28399269, 31219170		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	29700553		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	3755219, 4018790		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	3755219, 4018790		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30353554		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20413378		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30587542		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22796345, 26808085, 30915986		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	31062491		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	28627461		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30271376		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24786234		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22796345, 29395480, 31371700		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35562405, 36091936	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35562405	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30271376		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	31219170		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	15716953, 28135360, 28271634, 29087940, 29311335, 29625451, 29905117, 30271376, 31191431		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30809186		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	22881342, 23286902		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	22881342	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28135360		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22796345		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15901846, 22375000, 28627461		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31261700		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28491019		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29773814, 30201049		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30419252, 7426426		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30006118, 30605663		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	18804284, 20691201, 22881342, 23286902, 29718372, 30271376, 31219170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal Affective Disorder	PSYGENET_DG	18804284, 20691201, 22881342, 23286902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal affective disorder	Pubtator	22881342, 23809464	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31310657		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	22881342, 29700553		★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	28782536		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	30271376		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	29700553	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28476568		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28476568		★☆☆☆☆ Found in Text Mining only