OPN4

Summary

OPN4 (opsin 4, HGNC:14449) is a protein-coding gene on chromosome 10q23.2, encoding Melanopsin (Q9UHM6). Photoreceptor that binds cis-retinaldehydes.

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 ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 94233 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_033282

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14449
Approved symbol	OPN4
Name	opsin 4
Location	10q23.2
Locus type	gene with protein product
Status	Approved
Aliases	MOP, melanopsin
Ensembl gene	ENSG00000122375
Ensembl biotype	protein_coding
OMIM	606665
Entrez	94233

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000241891, ENST00000372071, ENST00000686083, ENST00000690949

RefSeq mRNA: 2 — MANE Select: NM_033282 NM_001030015, NM_033282

CCDS: CCDS31237, CCDS7376

Canonical transcript exons

ENST00000241891 — 10 exons

Exon	Start	End
ENSE00003843370	86665713	86666460
ENSE00003845915	86654547	86654927
ENSE00003922585	86662252	86662432
ENSE00003923798	86663659	86663802
ENSE00003925250	86659297	86659468
ENSE00003927154	86658484	86658687
ENSE00003930476	86659895	86660059
ENSE00003931250	86656155	86656300
ENSE00003933505	86661281	86661388
ENSE00003935014	86658032	86658165

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 68.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2006 / max 27.3834, expressed in 70 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105966	0.1316	54
105967	0.0689	36

Top tissues by expression

233 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	68.55	gold quality
muscle of leg	UBERON:0001383	67.39	gold quality
putamen	UBERON:0001874	65.01	gold quality
nucleus accumbens	UBERON:0001882	63.89	gold quality
subcutaneous adipose tissue	UBERON:0002190	62.19	gold quality
anterior cingulate cortex	UBERON:0009835	62.09	gold quality
caudate nucleus	UBERON:0001873	61.81	gold quality
endothelial cell	CL:0000115	59.67	gold quality
epithelium of nasopharynx	UBERON:0001951	58.49	gold quality
prefrontal cortex	UBERON:0000451	58.13	gold quality
heart left ventricle	UBERON:0002084	57.78	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	57.33	gold quality
cardiac ventricle	UBERON:0002082	57.18	gold quality
oocyte	CL:0000023	56.76	gold quality
right atrium auricular region	UBERON:0006631	56.67	gold quality
cardiac atrium	UBERON:0002081	56.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	55.80	gold quality
neocortex	UBERON:0001950	55.51	gold quality
apex of heart	UBERON:0002098	55.41	gold quality
jejunal mucosa	UBERON:0000399	55.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	55.08	gold quality
frontal cortex	UBERON:0001870	54.78	gold quality
right frontal lobe	UBERON:0002810	53.85	gold quality
germinal epithelium of ovary	UBERON:0001304	53.76	gold quality
heart	UBERON:0000948	53.73	gold quality
mucosa of transverse colon	UBERON:0004991	53.57	gold quality
cerebral cortex	UBERON:0000956	53.41	gold quality
right lobe of thyroid gland	UBERON:0001119	53.21	gold quality
forebrain	UBERON:0001890	53.12	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	53.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting OPN4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-10A-5P	98.89	69.85	712
HSA-MIR-4764-5P	98.88	65.53	894

Literature-anchored findings (GeneRIF, showing 35)

• melanopsin acts as a sensory photopigment, coupled to a native ion channel via a G-protein signalling cascade, to drive physiological light detection (PMID:15674244)
• an anatomically distinct population of ‘giant’, melanopsin-expressing ganglion cells in the primate retina that, in addition to being intrinsically photosensitive, are strongly activated by rods and cones (PMID:15716953)
• Regulation of melanopsin expression [review] (PMID:16687290)
• HEK293 cells stably expressing melanopsin have proven to be a useful tool to study melanopsin-initiated signaling. (PMID:16961436)
• Data show that Seasonal Affective Disorder participants have a higher frequency of the melanopsin (OPN4) homozygous minor genotype (T/T) for the missense variant rs2675703 (P10L) than controls, compared to the combined frequencies of C/C and C/T. (PMID:18804284)
• The recent advances in the emerging roles of melanopsin and intrinsically photosensitive retinal ganglion cells, are reviewed. (PMID:20810319)
• Melanopsin and mechanisms of non-visual ocular photoreception (PMID:22074930)
• the results indicate that ectopic expression of human OPN4 in orexin neurons enables long-lasting activation of orexin neurons by blue light to control sleep/wakefulness of the mice. (PMID:22868039)
• These results suggest that the P10L TT genotype of melanopsin interacts with daylength to predispose individuals to vary in sleep onset and chronotype as a function of daylength. (PMID:22881342)
• The relative contribution of melanopsin and visual photoreceptors are assessed by comparing pupillary light reflex responses in a totally visually blind patient with normally sighted individuals. (PMID:23055493)
• An action spectrum for the calcium response in cells expressing human melanopsin had the predicted form for an opsin : vitamin A1 pigment and peaked at 479 nm. The G-protein selectivity and spectral sensitivity of human melanopsin is similar to that previously described for rodents. (PMID:23554393)
• Significant interaction between the genotype of I394T (TT versus TC+CC) and luminance levels was found in pupil size. (PMID:23555953)
• The results of this study showed that the post illumination pupil response varied on the basis of OPN4 I394T genotype among individuals with seasonal affective disorder. (PMID:23809464)
• Studied the association between melanopsin gene polymorphism and pupillary light reflex under diverse photic conditions, including different intensities and wavelengths. (PMID:24119231)
• A comparison of melanopsin with the mechanisms documented for vertebrate (bovine) and invertebrate (squid) visual photoreceptors shows that such a mechanism is not affected by the diversity of the three chromophore cavities. (PMID:24449866)
• Studied OPN4*Ile394Thr gene polymorphism in association with sleep/wake timing. (PMID:24887407)
• The light-induced FOS response in melanopsin expressing HEK-293 cells is correlated with melanopsin quantity and dependent on light duration and irradiance. (PMID:24909488)
• The response of the human pupil to the separate stimulation of the cones and melanopsin at a range of temporal frequencies under photopic conditions, was measured. (PMID:25313040)
• By broadening the tuning of intrinsically photosensitive retinal ganglion cells, melanopsin tristability produces signal integration. (PMID:25741728)
• Trait-like individual differences in the melanopsin phototransduction circuitry contribute to individual differences in sleep timing. Blue light-sensitive young individuals are more prone to delayed sleep. (PMID:27091519)
• The wide distribution of OPN4 in central areas of the human brain evokes a question whether ambient light has important straight targets in the human brain outside the retinohypothalamic tract. (PMID:27690288)
• Seeing the light to change colour: An evolutionary perspective on the role of melanopsin in neuroendocrine circuits regulating light-mediated skin pigmentation. (PMID:29239123)
• Valuable insight into the structure-function relationships of human melanopsin, including several key functional residues of the melanopsin protein. The identification of melanopsin variants with significantly altered function may serve to detect individuals with disrupted melanopsin-based light perception, and potentially highlight those at increased risk of sleep disturbance, circadian dysfunction, and visual disorders. (PMID:29700553)
• Melanopsin Thr394Ile and Pro10Leu single-nucleotide polymorphisms are directly associated with altered melanopsin signaling. (PMID:29718372)
• A quantitative analysis of the contribution of melanopsin to brightness perception. (PMID:31110303)
• OPN4 (Melanopsin) in retinal ganglion cells has roles in aging and disease [review] (PMID:31219170)
• OPN4 belongs to the photosensitive system of the human skin. (PMID:31989708)
• Targeting Opsin4/Melanopsin with a Novel Small Molecule Suppresses PKC/RAF/MEK/ERK Signaling and Inhibits Lung Adenocarcinoma Progression. (PMID:32269074)
• Melanopsin mediates UVA-dependent modulation of proliferation, pigmentation, apoptosis, and molecular clock in normal and malignant melanocytes. (PMID:32645331)
• Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans. (PMID:33445464)
• Exosomal S100A4 derived from highly metastatic hepatocellular carcinoma cells promotes metastasis by activating STAT3. (PMID:34035222)
• Melanopsin (Opn4) is an oncogene in cutaneous melanoma. (PMID:35562405)
• The melanopsin-mediated pupil response is reduced in idiopathic hypersomnia with long sleep time. (PMID:35637236)
• Melanopsin-mediated amplification of cone signals in the human visual cortex. (PMID:38808443)
• Melanopsin in the human and chicken choroid. (PMID:39151779)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	opn4a	ENSDARG00000022098
danio_rerio	opn4b	ENSDARG00000053929
mus_musculus	Opn4	ENSMUSG00000021799
rattus_norvegicus	Opn4	ENSRNOG00000053893
drosophila_melanogaster	ninaE	FBGN0002940
drosophila_melanogaster	Rh2	FBGN0003248
drosophila_melanogaster	Rh3	FBGN0003249
drosophila_melanogaster	Rh4	FBGN0003250
drosophila_melanogaster	Rh5	FBGN0014019

Paralogs (9): OPN3 (ENSG00000054277), OPN1LW (ENSG00000102076), OPN5 (ENSG00000124818), OPN1SW (ENSG00000128617), RHO (ENSG00000163914), OPN1MW2 (ENSG00000166160), RRH (ENSG00000180245), OPN1MW (ENSG00000268221), OPN1MW3 (ENSG00000269433)

Protein

Protein identifiers

Melanopsin — Q9UHM6 (reviewed: Q9UHM6)

Alternative names: Opsin-4

All UniProt accessions (1): Q9UHM6

UniProt curated annotations — full annotation on UniProt →

Function. Photoreceptor that binds cis-retinaldehydes. Contributes to pupillar reflex, photoentrainment and other non-image forming responses to light. May be involved in the optokinetic visual tracking response. May be involved in the regulation of retinal hyaloid vessel growth and regression.

Subcellular location. Cell membrane. Cell projection. Axon. Dendrite. Perikaryon.

Tissue specificity. Expressed in the retina.

Similarity. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UHM6-1	1	yes
Q9UHM6-2	2

RefSeq proteins (2): NP_001025186, NP_150598* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR001760	Opsin	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR027430	Retinal_BS	Binding_site
IPR050125	GPCR_opsins	Family

Pfam: PF00001

UniProt features (26 total): topological domain 8, transmembrane region 7, sequence variant 3, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, disulfide bond 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHM6-F1	74.78	0.52

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 340

Disulfide bonds (1): 143–221

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-416476	G alpha (q) signalling events
R-HSA-419771	Opsins

MSigDB gene sets: 98 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_CIRCADIAN_RHYTHM, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, GOBP_BEHAVIOR, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, GOBP_REGULATION_OF_CIRCADIAN_RHYTHM, GOBP_TAXIS, GOBP_ANATOMICAL_STRUCTURE_REGRESSION, GOBP_DETECTION_OF_TEMPERATURE_STIMULUS, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MARTIN_NFKB_TARGETS_UP, MARTIN_VIRAL_GPCR_SIGNALING_UP, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS

GO Biological Process (13): G protein-coupled receptor signaling pathway (GO:0007186), visual perception (GO:0007601), phototransduction (GO:0007602), optokinetic behavior (GO:0007634), regulation of circadian rhythm (GO:0042752), thermotaxis (GO:0043052), rhythmic process (GO:0048511), detection of temperature stimulus involved in thermoception (GO:0050960), retina development in camera-type eye (GO:0060041), cellular response to light stimulus (GO:0071482), hyaloid vascular plexus regression (GO:1990384), signal transduction (GO:0007165), detection of visible light (GO:0009584)

GO Molecular Function (5): 11-cis retinal binding (GO:0005502), G protein-coupled photoreceptor activity (GO:0008020), G protein-coupled receptor activity (GO:0004930), protein binding (GO:0005515), photoreceptor activity (GO:0009881)

GO Cellular Component (8): plasma membrane (GO:0005886), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), perikaryon (GO:0043204), photoreceptor disc membrane (GO:0097381), sperm head plasma membrane (GO:1990913), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
GPCR downstream signalling	1
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
G protein-coupled receptor activity	2
signal transduction	2
detection of light stimulus	2
camera-type eye development	2
neuron projection	2
sensory perception of light stimulus	1
visual behavior	1
circadian rhythm	1
regulation of biological process	1
response to temperature stimulus	1
taxis	1
biological_process	1
thermoception	1
detection of temperature stimulus involved in sensory perception	1
anatomical structure development	1
response to light stimulus	1
cellular response to radiation	1
anatomical structure regression	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
retinal binding	1
detection of visible light	1
photoreceptor activity	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
binding	1
signaling receptor activity	1
membrane	1
cell periphery	1
dendritic tree	1
neuronal cell body	1
photoreceptor outer segment	1
organelle membrane	1
sperm head	1
sperm plasma membrane	1
plasma membrane region	1

Protein interactions and networks

STRING

1324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OPN4	CNGA3	Q16281	941
OPN4	GNAT1	P11488	895
OPN4	AANAT	Q16613	853
OPN4	GLYATL1	Q969I3	851
OPN4	RPE65	Q16518	849
OPN4	GNAT2	P19087	822
OPN4	LRAT	O95237	782
OPN4	CNGB3	Q9NQW8	739
OPN4	PDE6C	P51160	731
OPN4	PER2	O15055	727
OPN4	FOS	P01100	710
OPN4	POU4F2	Q12837	709
OPN4	POU4F1	Q01851	694
OPN4	CRY1	Q16526	679
OPN4	BMAL1	O00327	679

IntAct

5 interactions, top by confidence:

A	B	Type	Score
UBQLN2	OPN4	psi-mi:“MI:0915”(physical association)	0.560
OPN4	STX12	psi-mi:“MI:0914”(association)	0.350
UBQLN2	OPN4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): STX12 (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), STX12 (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), STX10 (Affinity Capture-MS), UBQLN2 (Two-hybrid), STX12 (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), OPN4 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: O02300, O08892, O15973, O42490, O46635, O55040, O88319, P08908, P19020, P20789, P28222, P28334, P28564, P30728, P30989, P30994, P31389, P35404, P35462, P46636, P49144, P52703, P53453, P53454, P56496, P60020, P79250, Q02152, Q0EAB5, Q17239, Q1JPS6, Q25321, Q25322, Q588Y6, Q5IS72, Q5XXP2, Q5YKK9, Q6XL69, Q6XXX8, Q6XXX9

Diamond homologs: A0A287A2K5, O01668, O02464, O02465, O15973, O16005, O16017, O16018, O16019, O16020, O18312, O18315, O18481, O18485, O18486, O42427, O57422, O61303, O96107, O97512, P04950, P06002, P08099, P08255, P09241, P17646, P22269, P24603, P28678, P28679, P28680, P29371, P29404, P31356, P32251, P35356, P35360, P35361, P35362, P47937

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1849 predictions. Top by Δscore:

Variant	Effect	Δscore
10:86658685:GGA:G	donor_gain	1.0000
10:86658686:GA:G	donor_gain	1.0000
10:86658686:GAG:G	donor_gain	1.0000
10:86658688:G:GG	donor_gain	1.0000
10:86659465:GACG:G	donor_gain	1.0000
10:86659466:ACGGT:A	donor_loss	1.0000
10:86659467:CGG:C	donor_loss	1.0000
10:86659469:GTAA:G	donor_loss	1.0000
10:86659470:T:G	donor_loss	1.0000
10:86659890:CCTA:C	acceptor_loss	1.0000
10:86659892:TA:T	acceptor_loss	1.0000
10:86659893:AG:A	acceptor_gain	1.0000
10:86659894:GG:G	acceptor_gain	1.0000
10:86660055:GCTGG:G	donor_gain	1.0000
10:86660057:TGGG:T	donor_loss	1.0000
10:86660058:GG:G	donor_gain	1.0000
10:86660059:GG:G	donor_gain	1.0000
10:86660059:GGT:G	donor_loss	1.0000
10:86660060:G:GC	donor_loss	1.0000
10:86660060:G:GG	donor_gain	1.0000
10:86660061:T:A	donor_loss	1.0000
10:86661383:G:GG	donor_gain	1.0000
10:86663799:G:T	donor_gain	1.0000
10:86654928:G:GG	donor_gain	0.9900
10:86656314:G:GA	donor_gain	0.9900
10:86656358:G:T	donor_gain	0.9900
10:86658030:A:AG	acceptor_gain	0.9900
10:86658030:AGG:A	acceptor_loss	0.9900
10:86658031:G:GG	acceptor_gain	0.9900
10:86658031:GGA:G	acceptor_gain	0.9900

AlphaMissense

3096 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:86658663:A:C	S202R	0.990
10:86658665:T:A	S202R	0.990
10:86658665:T:G	S202R	0.990
10:86658132:A:C	S131R	0.981
10:86658134:C:A	S131R	0.981
10:86658134:C:G	S131R	0.981
10:86660007:T:C	F305L	0.981
10:86660009:C:A	F305L	0.981
10:86660009:C:G	F305L	0.981
10:86658660:T:A	W201R	0.980
10:86658660:T:C	W201R	0.980
10:86658684:T:A	W209R	0.979
10:86658684:T:C	W209R	0.979
10:86658084:A:C	S115R	0.977
10:86658086:C:A	S115R	0.977
10:86658086:C:G	S115R	0.977
10:86658074:C:A	N111K	0.974
10:86658074:C:G	N111K	0.974
10:86658687:A:C	S210R	0.972
10:86659298:C:A	S210R	0.972
10:86659298:C:G	S210R	0.972
10:86661335:G:C	K340N	0.972
10:86661335:G:T	K340N	0.972
10:86661331:C:A	A339D	0.969
10:86656274:C:A	N88K	0.967
10:86656274:C:G	N88K	0.967
10:86658562:G:C	R168P	0.967
10:86658642:T:A	W195R	0.966
10:86658642:T:C	W195R	0.966
10:86656293:T:C	F95L	0.965

dbSNP variants (sampled 300 via entrez): RS1000043043 (10:86659606 G>A), RS1000062127 (10:86666731 G>A), RS1000074284 (10:86659853 C>T), RS1000805825 (10:86662346 C>A,T), RS1000858027 (10:86662160 C>T), RS1001637846 (10:86660408 G>A), RS1001742668 (10:86660956 G>A,C), RS1002190868 (10:86666425 G>A,C), RS1002300039 (10:86661584 G>A,T), RS1002407576 (10:86657391 G>A), RS1002734832 (10:86653459 CAG>C), RS1002739815 (10:86656156 C>T), RS1002749880 (10:86660635 C>A,T), RS1002824626 (10:86661816 C>T), RS1003045310 (10:86660345 G>T)

Disease associations

OMIM: gene MIM:606665 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: gpcr — Opsin receptors

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Diazinon	increases methylation	1
Plant Extracts	decreases expression, affects cotreatment	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.