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Aliases for OPN1MW Gene

Aliases for OPN1MW Gene

  • Opsin 1, Medium Wave Sensitive 2 3 5
  • Green Cone Photoreceptor Pigment 2 3 4
  • Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2 3
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Green-Sensitive Opsin 3 4
  • GCP 3 4
  • GOP 3 4
  • Medium-Wave-Sensitive Opsin 1 3
  • Color Blindness, Deutan 2
  • Photopigment Apoprotein 3
  • Green Cone Pigment 3
  • OPN1MW1 3
  • COD5 3
  • CBBM 3
  • CBD 3

External Ids for OPN1MW Gene

Previous HGNC Symbols for OPN1MW Gene

  • GCP
  • CBBM
  • CBD

Previous GeneCards Identifiers for OPN1MW Gene

  • GC0XP148439
  • GC0XP150757
  • GC0XP151033
  • GC0XP151953
  • GC0XP151917
  • GC0XP152969
  • GC0XP153101
  • GC0XP153448

Summaries for OPN1MW Gene

Entrez Gene Summary for OPN1MW Gene

  • 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]

GeneCards Summary for OPN1MW Gene

OPN1MW (Opsin 1, Medium Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1MW include Colorblindness, Partial, Deutan Series and Blue Cone Monochromacy. Among its related pathways are Metabolism of fat-soluble vitamins and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1MW3.

UniProtKB/Swiss-Prot for OPN1MW Gene

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

Gene Wiki entry for OPN1MW Gene

Additional gene information for OPN1MW Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1MW Gene

Genomics for OPN1MW Gene

GeneHancer (GH) Regulatory Elements for OPN1MW Gene

Top Transcription factor binding sites by QIAGEN in the OPN1MW gene promoter:

Genomic Locations for OPN1MW Gene

Genomic Locations for OPN1MW Gene
14,266 bases
Plus strand

Genomic View for OPN1MW Gene

Genes around OPN1MW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1MW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPN1MW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1MW Gene

Proteins for OPN1MW Gene

  • Protein details for OPN1MW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Medium-wave-sensitive opsin 1
    Protein Accession:

    Protein attributes for OPN1MW Gene

    364 amino acids
    Molecular mass:
    40584 Da
    Quaternary structure:
    • Monomer. Homodimer. Homotetramer.

    Three dimensional structures from OCA and Proteopedia for OPN1MW Gene

neXtProt entry for OPN1MW Gene

Post-translational modifications for OPN1MW Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
  • Glycosylation at isoforms=34
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1MW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1MW Gene

Domains & Families for OPN1MW Gene

Gene Families for OPN1MW Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for OPN1MW Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with OPN1MW: view

Function for OPN1MW Gene

Molecular function for OPN1MW Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=530 nm {ECO:0000305 PubMed:2937147};
UniProtKB/Swiss-Prot Function:
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.

Gene Ontology (GO) - Molecular Function for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity TAS,IMP 8185948
GO:0042802 identical protein binding IDA 28402104
genes like me logo Genes that share ontologies with OPN1MW: view
genes like me logo Genes that share phenotypes with OPN1MW: view

Human Phenotype Ontology for OPN1MW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for OPN1MW Gene

miRTarBase miRNAs that target OPN1MW

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for OPN1MW Gene

Localization for OPN1MW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1MW Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPN1MW gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005886 plasma membrane IDA,IEA 20579627
GO:0005887 integral component of plasma membrane TAS 2937147
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OPN1MW: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OPN1MW Gene

Pathways & Interactions for OPN1MW Gene

genes like me logo Genes that share pathways with OPN1MW: view

Interacting Proteins for OPN1MW Gene

Selected Interacting proteins: P04001-OPSG_HUMAN for OPN1MW Gene via IID

Gene Ontology (GO) - Biological Process for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IEA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
genes like me logo Genes that share ontologies with OPN1MW: view

No data available for SIGNOR curated interactions for OPN1MW Gene

Drugs & Compounds for OPN1MW Gene

No Compound Related Data Available

Transcripts for OPN1MW Gene

mRNA/cDNA for OPN1MW Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OPN1MW Gene

Opsin 1 (cone pigments), medium-wave-sensitive:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1MW Gene

No ASD Table

Relevant External Links for OPN1MW Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OPN1MW Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OPN1MW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of OPN1MW Gene:


SOURCE GeneReport for Unigene cluster for OPN1MW Gene:


mRNA Expression by UniProt/SwissProt for OPN1MW Gene:

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

Evidence on tissue expression from TISSUES for OPN1MW Gene

  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPN1MW Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
  • breast
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with OPN1MW: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for OPN1MW Gene

Orthologs for OPN1MW Gene

Evolution for OPN1MW Gene

Gene Tree for OPN1MW (if available)
Gene Tree for OPN1MW (if available)

No data available for Orthologs for OPN1MW Gene

Paralogs for OPN1MW Gene

Paralogs for OPN1MW Gene

(7) SIMAP similar genes for OPN1MW Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with OPN1MW: view

Variants for OPN1MW Gene

Sequence variations from dbSNP and Humsavar for OPN1MW Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894914 pathogenic, Colorblindness, partial, deutan series, Cone monochromatism, Blue cone monochromacy (BCM) [MIM:303700], Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,191,716(+) T/C coding_sequence_variant, missense_variant
rs104894915 pathogenic, Colorblindness, partial, deutan series, Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,187,939(+) C/A coding_sequence_variant, missense_variant
rs104894916 pathogenic, Colorblindness, partial, deutan series, Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,195,934(+) G/A coding_sequence_variant, missense_variant
rs267606927 pathogenic, Cone dystrophy 5, X-linked, Cone dystrophy 5 (COD5) [MIM:303700] 154,190,173(+) T/C coding_sequence_variant, missense_variant
rs724159983 pathogenic, Colorblindness, partial, deutan series 154,182,566(+) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OPN1MW Gene

Variant ID Type Subtype PubMed ID
esv27518 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
esv3384147 CNV duplication 20981092
esv3392584 CNV duplication 20981092
nsv1075344 CNV deletion 25765185
nsv1132791 CNV duplication 24896259
nsv515186 CNV gain 21397061
nsv519042 CNV gain 19592680
nsv7161 CNV deletion 18451855

Variation tolerance for OPN1MW Gene

Gene Damage Index Score: 0.21; 4.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OPN1MW Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1MW Gene

Disorders for OPN1MW Gene

MalaCards: The human disease database

(10) MalaCards diseases for OPN1MW Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorblindness, partial, deutan series
  • cbd
blue cone monochromacy
  • bcm
cone dystrophy
  • cone dystrophy 3
retinitis pigmentosa
  • rp
red-green color blindness
  • colorblindness, partial, deutan series
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:8666378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Colorblindness, partial, deutan series (CBD) [MIM:303800]: A 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. {ECO:0000269 PubMed:12051694, ECO:0000269 PubMed:1302020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone dystrophy 5 (COD5) [MIM:303700]: A 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. {ECO:0000269 PubMed:20579627}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OPN1MW

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OPN1MW: view

No data available for Genatlas for OPN1MW Gene

Publications for OPN1MW Gene

  1. Defective colour vision associated with a missense mutation in the human green visual pigment gene. (PMID: 1302020) Winderickx J … Deeb SS (Nature genetics 1992) 3 4 44 58
  2. Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors. (PMID: 28402104) Hofmann L … Palczewski K (Biochemistry 2017) 3 4 58
  3. X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PMID: 20579627) Gardner JC … Hardcastle AJ (American journal of human genetics 2010) 3 4 58
  4. Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies. (PMID: 19956635) Holmes MV … Casas JP (PloS one 2009) 3 44 58
  5. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PMID: 12051694) Ueyama H … Yamade S (Biochemical and biophysical research communications 2002) 3 4 58

Products for OPN1MW Gene

Sources for OPN1MW Gene

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