OPN1MW Gene

HGNC Family G protein-coupled receptors
Name opsin 1 (cone pigments), medium-wave-sensitive
Description 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. [provided by RefSeq, Mar 2009]
Summary
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Mutations or misregulation of OPN1MW, as illustrated in studies of congenital red/green color vision deficiencies and retinal mosaic integrity, can disrupt cone function and lead to a range of color vision disorders—from mild deutan anomalies to severe cone dystrophies and even blue cone monochromacy in atypical cases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, proper folding, chromophore binding, and pre–messenger RNA splicing are fundamental to OPN1MW function. Experimental work using site‐directed mutagenesis and splicing assays has revealed that point mutations and specific exon 3 haplotypes can lead to misfolding, aberrant protein processing, or inefficient splicing of the opsin transcript. These defects prevent the formation of a functional visual pigment, thereby causing alterations in the absorbance spectrum and impairing phototransduction. Such molecular perturbations have been linked to clinical phenotypes like deuteranopia and Bornholm Eye Disease, underscoring the importance of precise opsin biogenesis and renewal in cone photoreceptors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBiophysical and structural investigations further demonstrate that OPN1MW exhibits distinct conformational and dynamic properties that are critical for its role in phototransduction. Studies of protein stability, post-translational modifications (including O-glycosylation), and vibrational dynamics have revealed that the green opsin differs from other opsins in its folding heterogeneity, interaction with 11-cis-retinal, and membrane organization. Moreover, research into the opsin gene cluster has documented gene conversion events and structural variations that contribute to a broad spectrum of phenotypes, and these insights drive current efforts toward therapeutic rescue in animal models of cone dysfunction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "22"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hisao Ueyama, Shigeki Kuwayama, Hiroo Imai, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-018-0623-8"}], "href": "https://doi.org/10.1186/s12881-018-0623-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29940872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29940872"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "David Salom, Hui Jin, Thomas A Gerken, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "The landscape of submicroscopic structural variants at the "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "OPN1LW/OPN1MW"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " gene cluster on Xq28 underlying blue cone monochromacy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2115538119"}], "href": "https://doi.org/10.1073/pnas.2115538119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35759666"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35759666"}]}]}]}
Synonyms OPN1MW1, CBD, GCP, CBBM, COD5
Proteins OPSG_HUMAN
NCBI Gene ID 2652
API
Download Associations
Predicted Functions View OPN1MW's ARCHS4 Predicted Functions.
Co-expressed Genes View OPN1MW's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View OPN1MW's ARCHS4 Predicted Functions.

Functional Associations

OPN1MW has 1,237 functional associations with biological entities spanning 7 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 57 datasets.

Click the + buttons to view associations for OPN1MW from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of OPN1MW gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of OPN1MW gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of OPN1MW gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of OPN1MW gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with OPN1MW gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of OPN1MW gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of OPN1MW gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of OPN1MW gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations phenotypes associated with OPN1MW gene from the curated ClinVar Gene-Phenotype Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of OPN1MW gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing OPN1MW protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with OPN1MW protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of OPN1MW gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with OPN1MW gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Disease Associations diseases associated with OPN1MW gene/protein from the curated CTD Gene-Disease Associations dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving OPN1MW gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with OPN1MW gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with OPN1MW gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with OPN1MW gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with OPN1MW gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at OPN1MW gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of OPN1MW gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of OPN1MW gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing OPN1MW from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with OPN1MW gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with OPN1MW gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with OPN1MW gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing OPN1MW from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of OPN1MW gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of OPN1MW gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of OPN1MW gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2023 biological processes involving OPN1MW gene from the curated GO Biological Process Annotations 2023 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by OPN1MW gene from the curated GO Molecular Function Annotations 2023 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of OPN1MW gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of OPN1MW gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with OPN1MW gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
HuBMAP ASCT+B Annotations cell types associated with OPN1MW gene from the HuBMAP ASCT+B dataset.
HuBMAP ASCT+B Augmented with RNA-seq Coexpression cell types associated with OPN1MW gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of OPN1MW gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of OPN1MW gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
MiRTarBase microRNA Targets microRNAs targeting OPN1MW gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of OPN1MW gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
OMIM Gene-Disease Associations phenotypes associated with OPN1MW gene from the curated OMIM Gene-Disease Associations dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for OPN1MW from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of OPN1MW gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Reactome Pathways 2014 pathways involving OPN1MW protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving OPN1MW protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of OPN1MW gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of OPN1MW gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of OPN1MW gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of OPN1MW gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of OPN1MW gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of OPN1MW gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of OPN1MW protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with OPN1MW protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
WikiPathways Pathways 2014 pathways involving OPN1MW protein from the Wikipathways Pathways 2014 dataset.
WikiPathways Pathways 2024 pathways involving OPN1MW protein from the WikiPathways Pathways 2024 dataset.