OPN1MW

Summary

OPN1MW (opsin 1, medium wave sensitive, HGNC:4206) is a protein-coding gene on chromosome Xq28, encoding Medium-wave-sensitive opsin 1 (P04001). Visual pigments are the light-absorbing molecules that mediate vision.

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-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness.

Source: NCBI Gene 2652 — RefSeq curated summary.

At a glance

• Gene–disease (curated): red-green color blindness (Definitive, ClinGen) — +3 more curated relationships
• Clinical variants (ClinVar): 40 total — 6 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 28
• MANE Select transcript: NM_000513

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4206
Approved symbol	OPN1MW
Name	opsin 1, medium wave sensitive
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	OPN1MW1, COD5
Ensembl gene	ENSG00000268221
Ensembl biotype	protein_coding
OMIM	300821
Entrez	2652

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000595290, ENST00000595330, ENST00000596998

RefSeq mRNA: 1 — MANE Select: NM_000513 NM_000513

CCDS: CCDS14743

Canonical transcript exons

ENST00000595290 — 6 exons

Exon	Start	End
ENSE00003029356	154193408	154193647
ENSE00003046691	154195930	154196861
ENSE00003097467	154191688	154191853
ENSE00003122755	154182596	154182789
ENSE00003486639	154187770	154188066
ENSE00003559801	154190054	154190222

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 70.36.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	70.36	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	36.65	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mucosa of stomach	UBERON:0001199	36.30	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
granulocyte	CL:0000094	35.85	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
vermiform appendix	UBERON:0001154	34.63	gold quality
bone marrow	UBERON:0002371	34.37	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
blood	UBERON:0000178	32.13	silver quality
urinary bladder	UBERON:0001255	31.35	gold quality
leukocyte	CL:0000738	31.32	gold quality
monocyte	CL:0000576	31.11	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	30.01	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
rectum	UBERON:0001052	28.40	silver quality
duodenum	UBERON:0002114	28.14	gold quality
myometrium	UBERON:0001296	27.84	gold quality
tonsil	UBERON:0002372	27.05	gold quality
right lobe of liver	UBERON:0001114	26.69	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
right coronary artery	UBERON:0001625	26.55	gold quality
left uterine tube	UBERON:0001303	26.40	silver quality
cortex of kidney	UBERON:0001225	26.37	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.33

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2C, RORA, RORB, THRB

miRNA regulators (miRDB)

33 targeting OPN1MW, 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-4534	99.99	66.58	1907
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-548Q	98.71	65.35	563
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-659-5P	95.36	65.00	300
HSA-MIR-4683	95.29	65.98	631

Literature-anchored findings (GeneRIF, showing 24)

• In Japanese males with congenital red/green color blindness the mutation Asn94Lys (AAC–>AAA) occurred in the single green gene of a deutan subject (A155); and Arg330Gln (CGA–>CAA) in both green genes of another, affecting protein folding and function (PMID:12051694)
• Abnormal distribution of cone green opsin is associated with autosomal dominant cone dystrophy (PMID:16020309)
• Results show that, although light absorption behaves differently in blue, green and red opsins, their low-frequency vibrational motions are similar. (PMID:19189139)
• 11-cis-retinol inactivates expressed cone opsins, acting an inverse agonist (PMID:19386593)
• Novel and known mutations affecting the L-M opsin gene array were identified in families with X-linked cone-dominated phenotypes. (PMID:20220053)
• Mutations in the LW/MW cone opsin gene array can, therefore, lead to a spectrum of disease, ranging from color blindness to progressive cone dystrophy (XLCOD5). (PMID:20579627)
• Genomic rearrangements in the affected genes cause blue cone monochromatism. (PMID:21267011)
• Missense mutatin in both OPN1LW and OPN1MW cause X-linked cone dystrophy. (PMID:22183383)
• Identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation that associates with blue cone monochromatism. (PMID:22998501)
• The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations. (PMID:23139274)
• We identified 76 individuals with an L-M array. Four had exonic mutations, but the other 72 had no mutation in the exons or flanking introns. Sixty-nine of the 72 individuals had a -71A>C substitution in the M gene promoter. (PMID:25820227)
• The study reports on a different regeneration mechanism among red and green cone opsins with retinal analogs using UV-Vis/fluorescence spectroscopic analyses, molecular modeling and site-directed mutagenesis. (PMID:26387074)
• Investigated 24 affected males with blue cone monochromacy from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. (PMID:27339364)
• Findings show that mutation in OPN1MW underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus. (PMID:27447086)
• Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling. (PMID:28045251)
• Data suggest that OPN1MW exhibits a conserved Pro-Pro motif in extracellular loop 2 as observed in monostable visual G-protein-coupled receptors; comparison of deuterium uptake between inactive and active states of OPN1MW suggests a reduced solvent accessibility of the extracellular N-terminal region and an increased accessibility of the chromophore binding site. (PMID:28402104)
• conformational characterization of the two deutan green cone opsin mutants N94K and R330Q; provide novel insights into the mechanism of green cone opsin alterations; results, on the disruptive effect of single point mutants, provide further evidence of the sophisticated network of structural interactions that underlay -and differentiate- rhodopsin and cone opsins functions (PMID:28487225)
• By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold more stable than WT. (PMID:29320632)
• OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy. (PMID:29386880)
• Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. (PMID:29940872)
• These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors. (PMID:30948514)
• Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. (PMID:34440353)
• Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. (PMID:35743313)
• The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. (PMID:35759666)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	opn1lw2	ENSDARG00000044861
danio_rerio	opn1lw1	ENSDARG00000044862
mus_musculus	Opn1mw	ENSMUSG00000031394
rattus_norvegicus	Opn1mw	ENSRNOG00000051529

Paralogs (9): OPN3 (ENSG00000054277), OPN1LW (ENSG00000102076), OPN4 (ENSG00000122375), OPN5 (ENSG00000124818), OPN1SW (ENSG00000128617), RHO (ENSG00000163914), OPN1MW2 (ENSG00000166160), RRH (ENSG00000180245), OPN1MW3 (ENSG00000269433)

Protein

Protein identifiers

Medium-wave-sensitive opsin 1 — P04001 (reviewed: P04001)

Alternative names: Green cone photoreceptor pigment, Green-sensitive opsin

All UniProt accessions (2): P04001, H0Y642

UniProt curated annotations — full annotation on UniProt →

Function. Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.

Subunit / interactions. Monomer. Homodimer. Homotetramer.

Subcellular location. Cell membrane.

Tissue specificity. The three color pigments are found in the cone photoreceptor cells.

Post-translational modifications. N-glycosylated. O-glycosylated. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.

Disease relevance. Colorblindness, partial, deutan series (CBD) [MIM:303800] An X-linked color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. The disease is caused by variants affecting the gene represented in this entry. Blue cone monochromacy (BCM) [MIM:303700] A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. The disease is caused by variants affecting the gene represented in this entry. Cone dystrophy 5 (COD5) [MIM:303700] An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. The disease is caused by variants affecting the gene represented in this entry.

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

RefSeq proteins (1): NP_000504* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000378	Opsin_red/grn	Family
IPR001760	Opsin	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR027430	Retinal_BS	Binding_site
IPR050125	GPCR_opsins	Family

Pfam: PF00001

UniProt features (40 total): helix 9, topological domain 8, transmembrane region 7, sequence variant 4, turn 3, strand 3, region of interest 2, chain 1, modified residue 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
8Y01	ELECTRON MICROSCOPY	2.48
9YDA	ELECTRON MICROSCOPY	2.9
9YGZ	ELECTRON MICROSCOPY	3.04

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04001-F1	83.13	0.56

Antibody-complex structures (SAbDab): 1 — 8Y01

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): 312

Disulfide bonds (1): 126–203

Glycosylation sites (1): 34

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-2187335	The retinoid cycle in cones (daylight vision)
R-HSA-418594	G alpha (i) signalling events
R-HSA-419771	Opsins
R-HSA-9918436	Defective visual phototransduction due to OPN1MW loss of function

MSigDB gene sets: 108 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, GOBP_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS

GO Biological Process (8): G protein-coupled receptor signaling pathway (GO:0007186), visual perception (GO:0007601), phototransduction (GO:0007602), absorption of visible light (GO:0016038), positive regulation of cytokinesis (GO:0032467), cellular response to light stimulus (GO:0071482), signal transduction (GO:0007165), detection of visible light (GO:0009584)

GO Molecular Function (4): G protein-coupled photoreceptor activity (GO:0008020), photoreceptor activity (GO:0009881), identical protein binding (GO:0042802), G protein-coupled receptor activity (GO:0004930)

GO Cellular Component (4): photoreceptor outer segment (GO:0001750), plasma membrane (GO:0005886), photoreceptor disc membrane (GO:0097381), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Visual phototransduction	1
GPCR downstream signalling	1
Class A/1 (Rhodopsin-like receptors)	1
Retinoid cycle disease events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
G protein-coupled receptor activity	2
signal transduction	2
detection of light stimulus	2
cellular anatomical structure	2
sensory perception of light stimulus	1
light absorption	1
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	1
response to light stimulus	1
cellular response to radiation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
detection of visible light	1
photoreceptor activity	1
signaling receptor activity	1
protein binding	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
photoreceptor cell cilium	1
membrane	1
cell periphery	1
photoreceptor outer segment	1
organelle membrane	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: O12948, O18910, O18912, O18913, O18914, O35476, O35478, O35599, O57605, O93441, O93459, P04000, P04001, P0DN77, P0DN78, P22329, P22330, P22331, P22332, P22671, P28683, P32309, P32310, P32311, P32312, P32313, P34989, P35357, P35358, P41591, P41592, P51471, P51472, P51474, P51488, P79863, P87365, P87366, P87367, Q8AYM7

Diamond homologs: O12948, O13092, O13227, O18910, O18911, O18912, O18913, O18914, O35476, O35478, O35599, O42604, O57605, O62794, O93441, O93459, P03999, P04000, P04001, P0DN77, P0DN78, P22328, P22329, P22330, P22331, P22332, P22671, P28683, P28684, P32308, P32309, P32310, P32311, P32312, P32313, P34989, P35357, P35358, P35359, P35403

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RORB	“up-regulates quantity by expression”	OPN1MW	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	17
Likely benign	12
Benign	3

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
10508	NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)	Pathogenic
10509	NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)	Pathogenic
10510	NC_000023.11:g.154182566A>C	Pathogenic
10512	NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)	Pathogenic
10513	NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)	Pathogenic
1213867	NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)	Pathogenic
565267	GRCh37/hg19 Xq28(chrX:153322172-153624604)x2	Likely pathogenic

SpliceAI

835 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154182787:GAG:G	donor_gain	1.0000
X:154182787:GAGGT:G	donor_loss	1.0000
X:154182788:AGG:A	donor_loss	1.0000
X:154182790:GTG:G	donor_loss	1.0000
X:154190052:A:AG	acceptor_gain	1.0000
X:154190053:G:GG	acceptor_gain	1.0000
X:154190219:GCAG:G	donor_gain	1.0000
X:154190220:CAGGT:C	donor_loss	1.0000
X:154190221:AGGT:A	donor_loss	1.0000
X:154190222:GGTAA:G	donor_loss	1.0000
X:154190223:GTA:G	donor_loss	1.0000
X:154190224:T:G	donor_loss	1.0000
X:154191682:CTCCA:C	acceptor_loss	1.0000
X:154191683:TCCAG:T	acceptor_loss	1.0000
X:154191684:CCAG:C	acceptor_loss	1.0000
X:154191685:CAGGT:C	acceptor_loss	1.0000
X:154191686:A:AT	acceptor_loss	1.0000
X:154191851:GCG:G	donor_gain	1.0000
X:154193404:TTAG:T	acceptor_loss	1.0000
X:154193405:TAGGT:T	acceptor_loss	1.0000
X:154182790:G:GG	donor_gain	0.9900
X:154182791:T:A	donor_loss	0.9900
X:154187867:AAATG:A	acceptor_gain	0.9900
X:154188062:GTGTG:G	donor_gain	0.9900
X:154188063:TGTGG:T	donor_loss	0.9900
X:154188064:GTG:G	donor_gain	0.9900
X:154188064:GTGGT:G	donor_loss	0.9900
X:154188065:TGGTA:T	donor_loss	0.9900
X:154188066:GGT:G	donor_loss	0.9900
X:154188067:G:GA	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS104894914 (X:154191716 T>C), RS104894915 (X:154187939 C>A), RS104894916 (X:154195934 G>A), RS113303783 (X:154183490 G>A), RS1156498056 (X:154180894 C>G), RS1156611497 (X:154184207 C>T), RS1156859024 (X:154190608 G>C), RS1156955493 (X:154193904 C>G), RS1157696466 (X:154188805 C>A), RS1157850813 (X:154193125 G>A), RS1159171711 (X:154191512 A>G), RS1160808598 (X:154186552 G>A), RS1161010896 (X:154188629 C>T), RS1162271605 (X:154188959 C>T), RS1162383918 (X:154193464 G>A)

Disease associations

OMIM: gene MIM:300821 | disease phenotypes: MIM:303700

GenCC curated gene-disease

Disease	Classification	Inheritance
blue cone monochromacy	Definitive	X-linked
red-green color blindness	Strong	X-linked
disorder of visual system	Moderate	X-linked
cone-rod dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
red-green color blindness	Definitive	XL

Mondo (6): blue cone monochromacy (MONDO:0010563), cone dystrophy 5, X-linked (MONDO:0800319), achromatopsia (MONDO:0018852), red-green color blindness (MONDO:0010564), cone-rod dystrophy (MONDO:0015993), disorder of visual system (MONDO:0024458)

Orphanet (2): Blue cone monochromatism (Orphanet:16), Achromatopsia (Orphanet:49382)

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000529	Progressive visual loss
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000551	Color vision defect
HP:0000603	Central scotoma
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0001105	Retinal atrophy
HP:0001131	Corneal dystrophy
HP:0001419	X-linked recessive inheritance
HP:0003577	Congenital onset
HP:0007641	Dyschromatopsia
HP:0007663	Reduced visual acuity
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007843	Attenuation of retinal blood vessels
HP:0007939	Blue cone monochromacy
HP:0008002	Abnormal macular pigmentation
HP:0011520	Deuteranomaly
HP:0012043	Pendular nystagmus
HP:0012508	Metamorphopsia
HP:0025549	Eccentric visual fixation
HP:0030466	Abnormal full-field electroretinogram
HP:0030619	Reduced OCT-measured foveal thickness

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
C536238	Blue cone monochromatism (supp.)

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Folic Acid	decreases expression	1
Valproic Acid	increases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04997954	PHASE4	UNKNOWN	EMERALD TRIAL Open Label Extension Study
NCT04527003	PHASE3	TERMINATED	Cannabidiol and Management of Endometriosis Pain
NCT04360044	PHASE2	COMPLETED	Efficacy of Inhaled Cannabis for Acute Migraine Treatment
NCT04412837	PHASE2	WITHDRAWN	The Use of Cannabinoid Patch for Knee Osteoarthritis
NCT04482244	PHASE2	ACTIVE_NOT_RECRUITING	RCT of CBD for Anxiety in Advanced Breast Cancer
NCT04611347	PHASE2	COMPLETED	Is Topical CBD Effective in Treating Thumb Joint Arthritis
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT04030442	PHASE1	UNKNOWN	Cannabidiol, Morphine, Pain
NCT04686539	PHASE1	UNKNOWN	Synthetic CBD as a Therapy for COVID-19
NCT04729244	PHASE1	UNKNOWN	The Study of Hemp Oil CBD for Evaluation of Efficacy and Safety in Treatment of Pain, Anxiety and Insomnia Management
NCT05121506	PHASE1	COMPLETED	A Study to Investigate the Bioavailability and Skin Absorption of CBD and THC From GT4 Technology in Healthy Adults
NCT05490511	PHASE1	COMPLETED	Drug-gene-nutraceutical Interactions of Cannabidiol and Tacrolimus
NCT07001930	PHASE1	RECRUITING	Effects of Cannabidiol on Stress and Nicotine Withdrawal
NCT04034940	Not specified	UNKNOWN	Correlations Between Oxidative Stress Biomarkers, h-FABP and Left Ventricular Dysfunction in Patients With Acute Myocardial Infarction Undergoing Primary PCI
NCT06491615	Not specified	RECRUITING	National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
NCT04423341	PHASE2/PHASE3	COMPLETED	Effect of Non-psychoactive Cannabidiol as an Adjunct to Botulinum Toxin in Blepharospasm
NCT04775030	PHASE2/PHASE3	UNKNOWN	Methodology for Developing an Occlusal Appliance With CBD Active Carrier
NCT05562635	PHASE2/PHASE3	UNKNOWN	CBD (Cannabidiol) Intraoral Application and TMD (Temporomandibular Disorders)
NCT04778644	PHASE1/PHASE2	UNKNOWN	Hippocampal Response to Acute Oral Doses of CBD During an fMRI Memory Task
NCT04976738	PHASE1/PHASE2	COMPLETED	A Study of Cybis™ 10:25 THC:CBD Oil in Adults With Chronic Back/Neck Pain
NCT04398719	EARLY_PHASE1	COMPLETED	CBD-Microglia PET Study
NCT04777643	EARLY_PHASE1	COMPLETED	Sex Differences in Neural Response to Cannabidiol
NCT02994030	Not specified	COMPLETED	Biomarker for Duchenne Muscular Dystrophy
NCT04680130	Not specified	ENROLLING_BY_INVITATION	Clinico-Pathologic-Genetic-Imaging Study of Neurodegenerative and Related Disorders
NCT04831294	Not specified	UNKNOWN	Effects of Cannabidiol (CBD) on the Brain
NCT04851392	Not specified	COMPLETED	Do Adolescents and Adults Differ in Their Acute Response to Cannabis?
NCT05956834	Not specified	ACTIVE_NOT_RECRUITING	A Multi-Modal Remote Monitoring Platform for Frontotemporal Lobar Degeneration (FTLD) Syndromes
NCT07069478	Not specified	RECRUITING	Cannabidiol (CBD) and Stress Response: Psychobiological Mechanisms
NCT06467344	PHASE1/PHASE2	RECRUITING	Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR)
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT00427180	Not specified	UNKNOWN	IRIS PILOT - Extended Pilot Study With a Retinal Implant System
NCT01864486	Not specified	COMPLETED	Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT02670980	Not specified	COMPLETED	Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy
NCT04658251	Not specified	TERMINATED	Study of New Mutations in Cone Disorders
NCT05355415	Not specified	RECRUITING	Adaptive Optics Imaging of Outer Retinal Diseases
NCT06445322	Not specified	RECRUITING	Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH)
NCT07548944	Not specified	RECRUITING	Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
NCT01648452	PHASE1/PHASE2	COMPLETED	CNTF Implants for CNGB3 Achromatopsia
NCT02599922	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial)