Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OPN1SW Gene

protein-coding   GIFtS: 59
GCID: GC07M128412

Opsin 1 (Cone Pigments), Short-Wave-Sensitive

(Previous name: blue cone photoreceptor pigment)
(Previous symbol: BCP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Opsin 1 (Cone Pigments), Short-Wave-Sensitive1 2     CBT2 5
BCP1 2 3 5     Color Blindness1
Blue Cone Photoreceptor Pigment1 2 3     tritan1
Blue-Sensitive Opsin1 2 3     Short-Wave-Sensitive Opsin 12
BOP2 3     

External Ids:    HGNC: 10121   Entrez Gene: 6112   Ensembl: ENSG000001286177   OMIM: 6135225   UniProtKB: P039993   

Export aliases for OPN1SW gene to outside databases

Previous GC identifers: GC07M126889 GC07M127952 GC07M127966 GC07M128006 GC07M128199 GC07M122773


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (cone pigments), short-wave-sensitive) is a protein-coding gene. Diseases associated with OPN1SW include colorblindness, tritan, and color blindness, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. GO annotations related to this gene include photoreceptor activity and G-protein coupled receptor activity. An important paralog of this gene is OPN3.

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPN1SW gene promoter:
         GR   USF1   p53   AP-1   ATF-2   GR-beta   USF-1   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPN1SW promoter sequence
   Search SABiosciences Chromatin IP Primers for OPN1SW

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPN1SW


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q32.1   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q31.3-q32

OPN1SW Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPN1SW gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M128412:  view genomic region     (about GC identifiers)

Start:
128,412,543 bp from pter      End:
128,415,844 bp from pter
Size:
3,302 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 127,795,527-127,798,828     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999 (See protein sequence)
Recommended Name: Short-wave-sensitive opsin 1  
Size: 348 amino acids; 39135 Da
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for OPN1SW:
1KPN (3D)    
Secondary accessions: Q13877

Explore the universe of human proteins at neXtProt for OPN1SW: NX_P03999

Explore proteomics data for OPN1SW at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P03999

  • OPN1SW Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OPN1SW Protein Expression
    REFSEQ proteins: NP_001699.1  
    ENSEMBL proteins: 
     ENSP00000249389  
    Reactome Protein details: P03999
    Human Recombinant Protein Products for OPN1SW: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for OPN1SW
    GenScript Custom Purified and Recombinant Proteins Services for OPN1SW
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OPN1SW 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0005887integral to plasma membrane TAS9089077
    GO:0016021integral to membrane ----
    GO:0042622photoreceptor outer segment membrane TAS--

    OPN1SW for ontologies           About GeneDecksing



    OPN1SW Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of OPN1SW
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for OPN1SW
    GenScript Custom Superior Antibodies Services for OPN1SW
    Novus Biologicals OPN1SW Antibody
    Abcam antibodies for OPN1SW
    Cloud-Clone Corp. Antibodies for OPN1SW 
    ThermoFisher Antibodies for OPN1SW
    LSBio Antibodies in human, mouse, rat for OPN1SW 

    Assay Products for OPN1SW: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for OPN1SW
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for OPN1SW
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OPN1SW 
    Cloud-Clone Corp. CLIAs for OPN1SW


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    OPN: GPCR / Class A : Opsin receptors

    5 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001760 Opsin
     IPR001521 Opsin_blue
     IPR027430 Retinal_BS
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P03999

    ProtoNet protein and cluster: P03999

    2 Blocks protein domains:
    IPB001521 Blue-sensitive opsin signature
    IPB001760 Opsin


    UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999
    Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily


    OPN1SW for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OPSB_HUMAN, P03999
    Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein,
    opsin, covalently linked to cis-retinal
    Biophysicochemical properties: Absorption: Abs(max)=420 nm;

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS2937147
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0009881photoreceptor activity IEA--
         
    OPN1SW for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for OPN1SW:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Opn1sw):
     nervous system  vision/eye 

    OPN1SW for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OPN1SW 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OPN1SW

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OPN1SW 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OPN1SW 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPN1SW
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate OPN1SW
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OPN1SW
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPN1SW

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OPN1SW
    Sirion Biotech Customized adenovirus for overexpression of OPN1SW

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OPN1SW (see all 6)
    OriGene ORF clones in mouse, rat for OPN1SW
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OPN1SW (NM_001708)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPN1SW
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPN1SW
    Sirion Biotech Customized lentivirus for stable overexpression of OPN1SW 
                         Customized lentivirus expression plasmids for stable overexpression of OPN1SW 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for OPN1SW
    Search LifeMap BioReagents cell lines for OPN1SW
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1SW


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OPN1SW About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.46
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.41
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    4The retinoid cycle in cones (daylight vision)
    The retinoid cycle in cones (daylight vision)0.36
    Retinoid cycle disease events0.36
    5Opsins
    Opsins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for OPN1SW
        GPCRs, Class A Rhodopsin-like

    5/12        Reactome Pathways for OPN1SW (see all 12)
        Diseases associated with visual transduction
    GPCR downstream signaling
    The retinoid cycle in cones (daylight vision)
    Retinoid cycle disease events
    Signaling by GPCR



    OPN1SW for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OPN1SW

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for OPN1SW (ENSP000002493894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAT1ENSP000002324614STRING: ENSP00000232461
    GNAT2ENSP000002513374STRING: ENSP00000251337
    RHOENSP000002962714STRING: ENSP00000296271
    GNG2ENSP000003344484STRING: ENSP00000334448
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007165signal transduction TAS2937147
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007601visual perception IEA--
    GO:0007602phototransduction TAS9089077

    OPN1SW for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    OPN1SW for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OPN1SW (OPSB)

    2 Novoseek inferred chemical compound relationships for OPN1SW gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bacterioopsin 89.9 4 14653583 (2), 1479357 (1)
    bacteriorhodopsin 81.4 6 1479357 (1), 8932303 (1), 12586385 (1), 14653583 (1)

    Search CenterWatch for drugs/clinical trials and news about OPN1SW / OPSB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OPN1SW gene: 
    NM_001708.2  

    Unigene Cluster for OPN1SW:

    Opsin 1 (cone pigments), short-wave-sensitive
    Hs.656404  [show with all ESTs]
    Unigene Representative Sequence: NM_001708
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000249389(uc003vnt.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPN1SW
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate OPN1SW
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OPN1SW
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPN1SW
    Clone
    Products:
         
    OriGene clones in human, mouse for OPN1SW (see all 6)
    OriGene ORF clones in mouse, rat for OPN1SW
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OPN1SW (NM_001708)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPN1SW
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPN1SW
    Sirion Biotech Customized lentivirus for stable overexpression of OPN1SW 
                         Customized lentivirus expression plasmids for stable overexpression of OPN1SW 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for OPN1SW
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OPN1SW
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1SW
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1SW

    Additional mRNA sequence: 

    DQ822478.1 M26172.1 

    3 DOTS entries:

    DT.95072231  DT.95202996  DT.121047092 

    10 AceView cDNA sequences:

    CR599610 BM666330 NM_001708 BM695152 CA420129 BQ189052 AW839178 M26172 
    AL524418 BX369013 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OPN1SW expression in normal human tissues (normalized intensities)      OPN1SW embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTCCCAG
    OPN1SW Expression
    About this image


    OPN1SW expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature S Cone Cells Outer Nuclear Layer

    See OPN1SW Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPN1SW

    SOURCE GeneReport for Unigene cluster: Hs.656404

    UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999
    Tissue specificity: The three color pigments are found in the cone photoreceptor cells

        SABiosciences Expression via Pathway-Focused PCR Array including OPN1SW: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for OPN1SW
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OPN1SW
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1SW
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1SW
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1SW

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for OPN1SW gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Opn1sw1 , 5 opsin 1 (cone pigments), short-wave-sensitive (color more1, 5 86.98(n)1
    86.01(a)1
      6 (12.36 cM)5
    120571  NM_007538.31  NP_031564.11 
     293766715 
    lizard
    (Anolis carolinensis)
    Reptilia OPN1SW6
    opsin 1 (cone pigments), short-wave-sensitive
    84(a)
    1 ↔ 1
    GL343828.1(107252-120183)
    African clawed frog
    (Xenopus laevis)
    Amphibia opn1sw-A2 violet cone opsin 72.5(n)    U23463.1 
    zebrafish
    (Danio rerio)
    Actinopterygii opn1sw22 opsin 1 (cone pigments), short-wave-sensitive, 2 77.16(n)   30582  AF109373.1 


    ENSEMBL Gene Tree for OPN1SW (if available)
    TreeFam Gene Tree for OPN1SW (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OPN1SW gene
    OPN32  RGR2  OPN1MW22  OPN42  OPN1LW2  OPN1MW2  RHO2  RRH2  
    OPN52  
    5 SIMAP similar genes for OPN1SW using alignment to 2 protein entries:     OPSB_HUMAN (see all proteins):
    RHO    DKFZp781I1948    OPN1LW    OPN1MW    OPN1MW2

    OPN1SW for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 SNPs in OPN1SW are shown (see all 141)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0048394
    Tritan color blindness (CBT)4--see VAR_0048392 S P mis40--------
    VAR_0048404
    Tritan color blindness (CBT)4--see VAR_0048402 P S mis40--------
    rs1048940311,2,4
    C,FTritan color blindness (CBT)4 pathogenic1131759069(-) CCTTCG/AGAGGC 2 /R /G mis12Minor allele frequency- A:0.00NA EU 5707
    rs1048940321,2
    Cpathogenic1131758058(-) CTCTCC/TCCCTC 2 P S mis10--------
    rs1115283801,2
    C,F--128413994(+) TCTGGA/GTGCTT 1 -- int12Minor allele frequency- G:0.04NA EU 1322
    rs567624131,2
    C--128413997(+) TTTTT-/TAATTT 1 -- int10--------
    rs732381051,2
    C,F--128414047(+) AGACCG/AAGTCT 1 -- int11Minor allele frequency- A:0.07NA 120
    rs1513027191,2
    --128414051(+) CGAGTC/TTCGCT 1 -- int10--------
    rs1861210081,2
    --128414082(+) GCAGTG/TGTGCA 1 -- int10--------
    rs454865051,2
    C--128414088(+) GTGCAG/ATCTCG 1 -- int16Minor allele frequency- A:0.15NA WA EA 364

    HapMap Linkage Disequilibrium report for OPN1SW (128412543 - 128415844 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OPN1SW:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735137CNV Deletion23290073
    esv2670312CNV Deletion23128226
    nsv831125CNV Loss17160897
    esv22837CNV Gain19812545


    Human Gene Mutation Database (HGMD): OPN1SW

    Locus Specific Mutation Databases (LSDB): OPN1SW
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing OPN1SW
    DNA2.0 Custom Variant and Variant Library Synthesis for OPN1SW

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613522   
    OMIM disorders: 190900  
    UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999
  • Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency
    of blue spectral sensitivity. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for OPN1SW:    About MalaCards
    colorblindness, tritan    color blindness    retinal disease    blindness
    eye disease    retinitis


    OPN1SW for disorders           About GeneDecksing

    Genetic Association Database (GAD): OPN1SW
    Human Genome Epidemiology (HuGE) Navigator: OPN1SW (1 document)

    Export disorders for OPN1SW gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OPN1SW gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with OPN1SW)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. (PubMed id 1531728)1, 2, 4 Weitz C.J....Nathans J. (1992)
    2. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PubMed id 2937147)1, 2, 3 Nathans J.... Hogness D.S. (1986)
    3. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. (PubMed id 8270261)1, 3, 9 Fitzgibbon J....Hunt D.M. (1994)
    4. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    5. Sequences and evolution of human and squirrel monkey blue opsin genes. (PubMed id 9089077)1, 2 Shimmin L.C.... Li W.H. (1997)
    6. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. (PubMed id 1386496)1, 2 Weitz C.J.... Nathans J. (1992)
    7. Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. (PubMed id 2565599)1, 2 Sarkar G. and Sommer S.S. (1989)
    8. Molecular biology of the visual pigments. (PubMed id 3303660)1, 2 Applebury M.L. and Hargrave P.A. (1986)
    9. Substitution of isoleucine for threonine at position 1 90 of S-opsin causes S-cone-function abnormalities. (PubMed id 23022137)1 Baraas R.C....Neitz M. (2012)
    10. Low-frequency vibrational modes and infrared absorban ce of red, blue and green opsin. (PubMed id 19189139)1 Thirumuruganandham S.P. and Urbassek H.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 611 HGNC: 1012 AceView: OPN1SW Ensembl:ENSG00000128617 euGenes: HUgn611
    ECgene: OPN1SW H-InvDB: OPN1SW

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OPN1SW Pharmacogenomics, SNPs, Pathways
    Mutations of the color pigment geneshttp://www.retina-international.org/files/sci-news/cppmut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OPN1SW gene:
    Search GeneIP for patents involving OPN1SW

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of OPN1SW
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for OPN1SW  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for OPN1SW  
     OriGene qSTAR qPCR primer pairs in human, mouse for OPN1SW   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for OPN1SW   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for OPN1SW   OriGene Custom Protein Services for OPN1SW  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OPN1SW
     QIAGEN SeqTarget long-range PCR primers for resequencing OPN1SW
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPN1SW
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPN1SW
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1SW
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1SW
     GenScript Custom Purified and Recombinant Proteins Services for OPN1SW GenScript cDNA clones with any tag delivered in your preferred vector for OPN1SW
     GenScript Custom Assay Services for OPN1SW GenScript Custom Superior Antibodies Services for OPN1SW
     GenScript Custom overexpressing Cell Line Services for OPN1SW CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in OPN1SW promoter
     Search Chromatin IP Primers for OPN1SW
     RT2 qPCR Primer Assay in human, mouse, rat OPN1SW
     Search GNC Networks for OPN1SW
     SABiosciences PCR Arrays including human, mouse, rat OPN1SW
     Search Tocris compounds for OPN1SW (OPSB)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     OPN1SW antibodies
     Antibodies for OPN1SW
     See all of Abcam's Antibodies, Kits and Proteins for OPN1SW
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for OPN1SW
     Antibodies for OPN1SW
     ELISAs for OPN1SW
     CLIAs for OPN1SW
     Search LifeMap BioReagents cell lines for OPN1SW
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1SW
     Browse SwitchGear 3'UTR luciferase reporter plasmids for OPN1SW
     SwitchGear Promoter luciferase reporter plasmids for OPN1SW
     ThermoFisher Antibodies for OPN1SW
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPN1SW
     inGenious Targeting Laboratory - Custom generated mouse model solutions for OPN1SW
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OPN1SW
    Customized:
     lentivirus for stable overexpression of OPN1SW
     lentivirus expression plasmids for stable overexpression of OPN1SW
     adenovirus for overexpression of OPN1SW
     LSBio Antibodies in human, mouse, rat for OPN1SW
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      OPN1SW gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4