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Aliases for OPN1SW Gene

Aliases for OPN1SW Gene

  • Opsin 1, Short Wave Sensitive 2 3 5
  • Blue Cone Photoreceptor Pigment 2 3 4
  • Blue-Sensitive Opsin 2 3 4
  • Opsin 1 (Cone Pigments), Short-Wave-Sensitive 2 3
  • BCP 3 4
  • BOP 3 4
  • Short-Wave-Sensitive Opsin 1 3
  • Color Blindness, Tritan 2
  • CBT 3

External Ids for OPN1SW Gene

Previous HGNC Symbols for OPN1SW Gene

  • BCP

Previous GeneCards Identifiers for OPN1SW Gene

  • GC07M126889
  • GC07M127952
  • GC07M127966
  • GC07M128006
  • GC07M128199
  • GC07M128412
  • GC07M122773

Summaries for OPN1SW Gene

Entrez Gene Summary for OPN1SW Gene

  • This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

GeneCards Summary for OPN1SW Gene

OPN1SW (Opsin 1, Short Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1SW include Tritanopia and Color Blindness. Among its related pathways are Metabolism of fat-soluble vitamins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is RHO.

UniProtKB/Swiss-Prot for OPN1SW 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 OPN1SW Gene

Additional gene information for OPN1SW Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1SW Gene

Genomics for OPN1SW Gene

GeneHancer (GH) Regulatory Elements for OPN1SW Gene

Promoters and enhancers for OPN1SW Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J128790 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 657.7 -16.0 -16049 2.4 HDGF ATF1 SIN3A ZNF2 ETS1 ZNF121 POLR2B ZNF766 GLIS2 KLF7 CCDC136 OPN1SW NRF1 ENSG00000271553 ENSG00000243679 CALU PIR31734 GC07P128991
GH07J128777 Enhancer 0.8 ENCODE 650.7 -2.0 -1992 0.2 FOXA2 ARNT NFXL1 ZBTB40 RARA ZEB1 ZNF280A FOS ATF7 MIXL1 OPN1SW GC07P129006 ENSG00000243679 ENSG00000230715 ENSG00000243302 ENSG00000229413 ENSG00000242588 TNPO3 ENSG00000272601 RBM28
GH07J128775 Promoter 0.6 EPDnew 667.5 0.0 -24 0.1 POLR2A OPN1SW GC07M128775 GC07M128774 GC07P129006
GH07J128737 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 28.8 +35.1 35087 6.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CALU ENSG00000243302 ENSG00000230715 ENSG00000243679 ENSG00000242588 TNPO3 RPS10P15 ENSG00000229413 CDC26P1 OPN1SW
GH07J128858 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.1 -84.2 -84248 3 HDGF HNRNPUL1 PKNOX1 ARNT YBX1 POLR2B ZNF766 CBX5 E2F8 ZNF592 ENSG00000243302 ENSG00000242588 CCDC136 ENSG00000230715 ENSG00000243679 OPN1SW TNPO3 ENSG00000229413 RPS10P15 FLNC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPN1SW on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OPN1SW gene promoter:
  • AP-1
  • GR-beta
  • GR-alpha
  • GR
  • ATF-2
  • c-Jun
  • USF1
  • USF-1
  • p53

Genomic Locations for OPN1SW Gene

Genomic Locations for OPN1SW Gene
3,302 bases
Minus strand
3,302 bases
Minus strand

Genomic View for OPN1SW Gene

Genes around OPN1SW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1SW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPN1SW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1SW Gene

Proteins for OPN1SW Gene

  • Protein details for OPN1SW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Short-wave-sensitive opsin 1
    Protein Accession:
    Secondary Accessions:
    • Q13877

    Protein attributes for OPN1SW Gene

    348 amino acids
    Molecular mass:
    39135 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OPN1SW Gene

neXtProt entry for OPN1SW Gene

Post-translational modifications for OPN1SW Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
  • Glycosylation at isoforms=14
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1SW Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for OPN1SW
  • Santa Cruz Biotechnology (SCBT) Antibodies for OPN1SW

No data available for DME Specific Peptides for OPN1SW Gene

Domains & Families for OPN1SW Gene

Gene Families for OPN1SW Gene

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

Protein Domains for OPN1SW Gene

Suggested Antigen Peptide Sequences for OPN1SW 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 OPN1SW: view

Function for OPN1SW Gene

Molecular function for OPN1SW Gene

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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=420 nm;

Phenotypes From GWAS Catalog for OPN1SW Gene

Gene Ontology (GO) - Molecular Function for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 obsolete signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity IEA --
GO:0038023 signaling receptor activity TAS 2937147
genes like me logo Genes that share ontologies with OPN1SW: view
genes like me logo Genes that share phenotypes with OPN1SW: view

Human Phenotype Ontology for OPN1SW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OPN1SW Gene

MGI Knock Outs for OPN1SW:

Animal Model Products

miRNA for OPN1SW Gene

miRTarBase miRNAs that target OPN1SW

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OPN1SW Gene

Localization for OPN1SW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1SW Gene

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 OPN1SW gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA,IBA --
GO:0005887 integral component of plasma membrane TAS 9089077
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with OPN1SW: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OPN1SW Gene

Pathways & Interactions for OPN1SW Gene

genes like me logo Genes that share pathways with OPN1SW: view

Gene Ontology (GO) - Biological Process for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction TAS 2937147
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007601 visual perception IEA,TAS --
GO:0007602 phototransduction TAS,IEA --
genes like me logo Genes that share ontologies with OPN1SW: view

No data available for SIGNOR curated interactions for OPN1SW Gene

Drugs & Compounds for OPN1SW Gene

(2) Additional Compounds for OPN1SW Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OPN1SW: view

Transcripts for OPN1SW Gene

mRNA/cDNA for OPN1SW Gene

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

Unigene Clusters for OPN1SW Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1SW Gene

No ASD Table

Relevant External Links for OPN1SW Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OPN1SW Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OPN1SW Gene

Protein differential expression in normal tissues from HIPED for OPN1SW Gene

This gene is overexpressed in Retina (48.4) and Platelet (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OPN1SW Gene

Protein tissue co-expression partners for OPN1SW Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OPN1SW Gene:


SOURCE GeneReport for Unigene cluster for OPN1SW Gene:


mRNA Expression by UniProt/SwissProt for OPN1SW Gene:

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

Evidence on tissue expression from TISSUES for OPN1SW Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPN1SW Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with OPN1SW: view

No data available for mRNA differential expression in normal tissues for OPN1SW Gene

Orthologs for OPN1SW Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPN1SW Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OPN1SW 34 33
  • 99.71 (n)
(Canis familiaris)
Mammalia OPN1SW 34 33
  • 88.57 (n)
(Bos Taurus)
Mammalia OPN1SW 34 33
  • 88.12 (n)
(Mus musculus)
Mammalia Opn1sw 16 34 33
  • 86.98 (n)
(Rattus norvegicus)
Mammalia Opn1sw 33
  • 86.88 (n)
(Monodelphis domestica)
Mammalia OPN1SW 34
  • 85 (a)
(Gallus gallus)
Aves PRA1 34
  • 46 (a)
(Anolis carolinensis)
Reptilia OPN1SW 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1sw 33
  • 70.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia opn1sw-A 33
(Danio rerio)
Actinopterygii opn1sw1 34 33
  • 63.93 (n)
opn1sw2 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11365 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11297 34
  • 32 (a)
-- 34
  • 31 (a)
Species where no ortholog for OPN1SW was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPN1SW Gene

Gene Tree for OPN1SW (if available)
Gene Tree for OPN1SW (if available)
Evolutionary constrained regions (ECRs) for OPN1SW: view image

Paralogs for OPN1SW Gene

Paralogs for OPN1SW Gene

(5) SIMAP similar genes for OPN1SW Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OPN1SW: view

Variants for OPN1SW Gene

Sequence variations from dbSNP and Humsavar for OPN1SW Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs104894031 pathogenic, Tritanopia, Tritan color blindness (CBT) [MIM:190900] 128,775,556(-) C/T coding_sequence_variant, missense_variant
rs104894032 pathogenic, Tritanopia, Tritan color blindness (CBT) [MIM:190900] 128,774,545(-) A/C/G coding_sequence_variant, missense_variant
rs104894033 pathogenic, Tritanopia, Tritan color blindness (CBT) [MIM:190900] 128,773,786(-) G/A coding_sequence_variant, missense_variant
rs1000306050 -- 128,776,218(-) T/C upstream_transcript_variant
rs1000380076 -- 128,776,591(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OPN1SW Gene

Variant ID Type Subtype PubMed ID
esv22837 CNV gain 19812545
esv2670312 CNV deletion 23128226
esv2735137 CNV deletion 23290073
nsv831125 CNV loss 17160897

Variation tolerance for OPN1SW Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OPN1SW 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 OPN1SW Gene

Disorders for OPN1SW Gene

MalaCards: The human disease database

(4) MalaCards diseases for OPN1SW Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
  • colorblindness, tritanopic
color blindness
  • blindness color
  • achm
primary hypomagnesemia
  • hypomagnesemia 1, intestinal
- elite association - COSMIC cancer census association via MalaCards


  • Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. {ECO:0000269 PubMed:1386496, ECO:0000269 PubMed:1531728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OPN1SW

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 OPN1SW: view

No data available for Genatlas for OPN1SW Gene

Publications for OPN1SW Gene

  1. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. (PMID: 8270261) Fitzgibbon J … Hunt DM (Human genetics 1994) 2 3 22 58
  2. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. (PMID: 1531728) Weitz CJ … Nathans J (American journal of human genetics 1992) 3 4 44 58
  3. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PMID: 2937147) Nathans J … Hogness DS (Science (New York, N.Y.) 1986) 2 3 4 58
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  5. Sequences and evolution of human and squirrel monkey blue opsin genes. (PMID: 9089077) Shimmin LC … Li WH (Journal of molecular evolution 1997) 3 4 58

Products for OPN1SW Gene

Sources for OPN1SW Gene

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