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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OPN1SW
opsin 1, short wave sensitive
Chromosome 7 · 7q32.1
NCBI Gene: 611Ensembl: ENSG00000128617.3HGNC: HGNC:1012UniProt: P03999
31PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneperinuclear region of cytoplasmvisual perceptionprotein bindingblue color blindnessTritanopiaatrial fibrillationneurodegenerative disease
✦AI Summary

OPN1SW encodes short-wavelength-sensitive opsin, a G protein-coupled photoreceptor responsible for blue light detection in cone photoreceptors 1. The protein functions as a visual pigment by binding cis-retinal to absorb visible light and activate phototransduction cascades 2. OPN1SW is essential for maintaining cone outer segment organization and ensuring correct localization of retinal membrane proteins, particularly in the ventral retina 3. Expression is regulated by RORβ (retinoid-related orphan receptor beta) in cooperation with CRX during postnatal cone development 3. OPN1SW evolution is shaped by nocturnal light environments; species in open-canopy forests experience stronger purifying selection to maintain functional SWS cones compared to closed-canopy species 4. Metabolically, OPN1SW+ cones display enriched fatty acid biosynthesis compared to other cone subtypes 1. Loss-of-function mutations cause tritan color blindness through haploinsufficiency or splicing defects 5. Gene therapy targeting OPN1SW-deficient cones shows promise for blue cone monochromacy (BCM) treatment, with early intervention (≤2 months) achieving sustained functional rescue for at least 8 months, while delayed treatment (≥5 months) shows significantly reduced efficacy 6. Rare missense mutations like p.G141S and p.R144C disrupt opsin structure and function 7.

Sources cited
1
OPN1SW expression in cone subtypes and enriched fatty acid biosynthesis in OPN1SW+ cones
PMID: 40839430
2
OPN1SW gene structure and sequencing methodology for identifying opsin variants
PMID: 32180681
3
RORβ activates OPN1SW expression during cone development; OPN1SW role in cone outer segment and photoreceptor development
PMID: 16574740
4
OPN1SW evolutionary selection pressure varies by nocturnal light environment; loss of function in some species
PMID: 23519316
5
OPN1SW splicing mutations cause inherited tritan color vision deficiency through haploinsufficiency
PMID: 32400513
6
Gene therapy for OPN1SW-deficient cones in blue cone monochromacy; therapeutic window and longevity of rescue
PMID: 35272502
7
OPN1SW missense mutations p.G141S and p.R144C disrupt opsin protein structure and function
PMID: 35527357
Disease Associationsⓘ21
blue color blindnessOpen Targets
0.68Moderate
TritanopiaOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.31Weak
Hodgkins lymphomaOpen Targets
0.31Weak
smoking initiationOpen Targets
0.21Weak
odontogenesisOpen Targets
0.21Weak
acute lymphoblastic leukemiaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
intelligenceOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Peri-ImplantitisOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
CirrhosisOpen Targets
0.04Suggestive
Miyoshi myopathyOpen Targets
0.03Suggestive
myocardial infarctionOpen Targets
0.03Suggestive
Tritan color blindnessUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GNGT1Protein interaction97%ARR3Protein interaction91%RBP3Protein interaction83%GNAT1Protein interaction83%GNGT2Protein interaction82%RHOProtein interaction81%
Tissue Expression6 tissues
Heart
100%
Brain
36%
Lung
32%
Bone Marrow
23%
Ovary
15%
Liver
14%
Gene Interaction Network
Click a node to explore
OPN1SWGNGT1ARR3RBP3GNAT1GNGT2RHO
PROTEIN STRUCTURE
Preparing viewer…
PDB8Y02 · 2.61 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.54–1.03]
RankingsWhere OPN1SW stands among ~20K protein-coding genes
  • #11,763of 20,598
    Most Researched31
  • #10,199of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedOPN1SW
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene Therapy in
PMID: 35272502
Hum Gene Ther · 2022
1.00
2
Nocturnal light environments influence color vision and signatures of selection on the OPN1SW opsin gene in nocturnal lemurs.
PMID: 23519316
Mol Biol Evol · 2013
0.90
3
Cross-species single-cell transcriptomic atlas of retinal photoreceptors reveals molecular signatures underlying color vision adaptation.
PMID: 40839430
Cell Rep · 2025
0.80
4
A two-step method for identifying photopigment opsin and
PMID: 32180681
Mol Vis · 2020
0.70
5
Identification and functional assays of single-nucleotide variants of opsins genes in melanocytic tumors.
PMID: 35527357
Pigment Cell Melanoma Res · 2022
0.60