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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OPN1LW
opsin 1, long wave sensitive
Chromosome X Β· Xq28
NCBI Gene: 5956Ensembl: ENSG00000102076.10HGNC: HGNC:9936UniProt: P04000
66PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of cytokinesisprotein bindingvisual perceptionphotoreceptor activityblue cone monochromacyred color blindnessBlue cone monochromatismred-green color blindness
✦AI Summary

OPN1LW encodes the long-wavelength sensitive opsin protein, a key component of the visual phototransduction cascade in L-cone photoreceptors. This X-linked gene forms part of a complex gene cluster with OPN1MW at Xq28, where diverse haplotypes have arisen through unequal recombination mechanisms that intermix the genes 1. The protein functions as a G-protein coupled photoreceptor that mediates light absorption and initiates phototransduction signaling pathways essential for color vision and high acuity vision 2. Specific haplotypes containing five polymorphisms (p.L153M, p.V171I, p.A174V, p.I178V, and p.S180A) in exon 3 cause partial or complete exon skipping during pre-mRNA splicing, resulting in cones nearly devoid of photopigment 34. These splicing defects are associated with multiple vision disorders including blue cone monochromacy, protanopia, and high myopia 56. The gene's contribution to early-onset high myopia is substantial, accounting for variants in 5.5% of families with this condition, making it the second most common cause of monogenic early-onset high myopia 4. The complex structure of the OPN1LW/OPN1MW gene cluster requires specialized diagnostic approaches using long-read sequencing due to limitations of conventional short-read methods 7.

Sources cited
1
OPN1LW forms part of complex gene cluster with OPN1MW where haplotypes arise through unequal recombination
PMID: 34440353
2
OPN1LW encodes protein involved in phototransduction and G-protein coupled receptor signaling
PMID: 40013354
3
Specific haplotypes cause exon skipping resulting in cones nearly devoid of photopigment
PMID: 35741704
4
OPN1LW variants account for 5.5% of early-onset high myopia families and cause both isolated myopia and myopia with protanopia
PMID: 37097228
5
OPN1LW/OPN1MW associated with blue cone monochromacy and Bornholm eye disease
PMID: 32860923
6
OPN1LW/OPN1MW array associated with cone dysfunction syndromes including blue-cone monochromatism
PMID: 38278208
7
Complex gene structure requires specialized diagnostic approaches beyond conventional sequencing
PMID: 36351915
Disease Associationsβ“˜22
blue cone monochromacyOpen Targets
0.62Moderate
red color blindnessOpen Targets
0.61Moderate
Blue cone monochromatismOpen Targets
0.61Moderate
red-green color blindnessOpen Targets
0.59Moderate
Progressive cone dystrophyOpen Targets
0.38Weak
Cone rod dystrophyOpen Targets
0.38Weak
cone-rod dystrophyOpen Targets
0.38Weak
Rod-cone dystrophyOpen Targets
0.38Weak
breast cancerOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Weak
lung cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
chronic myelogenous leukemiaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
bradyopsiaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
Blue cone monochromacyUniProt
Colorblindness, partial, protan seriesUniProt
Pathogenic Variants10
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)Pathogenic
Cone monochromatism|not provided|Protan defect
β˜…β˜…β˜†β˜†2024β†’ Residue 203
NM_020061.6(OPN1LW):c.529T>C (p.Trp177Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 177
NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)Likely pathogenic
Protan defect
β˜…β˜†β˜†β˜†2023β†’ Residue 255
NM_020061.6(OPN1LW):c.121G>T (p.Glu41Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 41
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)Pathogenic
Cone monochromatism
β˜…β˜†β˜†β˜†2021β†’ Residue 90
NM_020061.6(OPN1LW):c.354C>G (p.Tyr118Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 118
NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)Pathogenic
Protan defect
β˜†β˜†β˜†β˜†2002β†’ Residue 338
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)delPathogenic
Cone monochromatism
β˜†β˜†β˜†β˜†1996
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)Pathogenic
Cone monochromatism
β˜†β˜†β˜†β˜†1993β†’ Residue 247
NM_020061.6(OPN1LW):c.891C>G (p.Tyr297Ter)Pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 297
View on ClinVar β†—
Related Genes
OPN1MW3Shared pathway100%OPN1MW2Shared pathway100%GNGT1Protein interaction97%TEX28Protein interaction90%OPN1MWShared pathway84%NYXProtein interaction80%
Tissue Expression6 tissues
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
OPN1LWOPN1MW3OPN1MW2GNGT1TEX28OPN1MWNYX
PROTEIN STRUCTURE
Preparing viewer…
PDB8IU2 Β· 3.35 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.22 [0.11–0.51]
RankingsWhere OPN1LW stands among ~20K protein-coding genes
  • #7,096of 20,598
    Most Researched66
  • #2,861of 5,498
    Most Pathogenic Variants10
  • #3,074of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedOPN1LW
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
PMID: 38278208
Prog Retin Eye Res Β· 2024
1.00
2
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
PMID: 32860923
Prog Retin Eye Res Β· 2021
0.90
3
Insight from
PMID: 35741704
Genes (Basel) Β· 2022
0.80
4
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.
PMID: 40013354
Clin Exp Ophthalmol Β· 2025
0.70
5
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
PMID: 37097228
Invest Ophthalmol Vis Sci Β· 2023
0.60