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OPN1LW Gene

protein-coding   GIFtS: 57
GCID: GC0XP153409

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

(Previous names: color blindness, protan, red cone photoreceptor pigment)
(Previous symbols: CBBM, RCP, CBP)
  See OPN1LW-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)
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Aliases
Opsin 1 (Cone Pigments), Long-Wave-Sensitive1 2     Red-Sensitive Opsin2 3
RCP1 2 3 5     ROP2 3
Red Cone Photoreceptor Pigment1 2 3     Color Blindness, Protan1
CBBM1 2 5     COD52
CBP1 2 5     Long-Wave-Sensitive Opsin 12
Cone Dystrophy 5 (X-Linked)1 2     

External Ids:    HGNC: 99361   Entrez Gene: 59562   Ensembl: ENSG000001020767   OMIM: 3008225   UniProtKB: P040003   

Export aliases for OPN1LW gene to outside databases

Previous GC identifers: GC0XP147547 GC0XP149864 GC0XP150995 GC0XP151916 GC0XP151877 GC0XP152930 GC0XP153062 GC0XP142061


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OPN1LW Gene:
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red
cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven
transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and 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 partial,
protanopic colorblindness. (provided by RefSeq, Jul 2008)

GeneCards Summary for OPN1LW Gene:
OPN1LW (opsin 1 (cone pigments), long-wave-sensitive) is a protein-coding gene. Diseases associated with OPN1LW include colorblindness, protan, and osteonecrosis. 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: OPSR_HUMAN, P04000
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 OPN1LW 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the OPN1LW gene promoter:
         AML1a   Sp1   Evi-1   GATA-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPN1LW promoter sequence
   Search Chromatin IP Primers for OPN1LW

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OPN1LW


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

OPN1LW Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPN1LW gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153409:  view genomic region     (about GC identifiers)

Start:
153,409,698 bp from pter      End:
153,424,507 bp from pter
Size:
14,810 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 (See protein sequence)
Recommended Name: Long-wave-sensitive opsin 1  
Size: 364 amino acids; 40572 Da
1 PDB 3D structure from and Proteopedia for OPN1LW:
1KPX (3D)    

Explore the universe of human proteins at neXtProt for OPN1LW: NX_P04000

Explore proteomics data for OPN1LW at MOPED

Post-translational modifications: 

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region1
  • Glycosylation2 at Asn34

  • See OPN1LW Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064445.2  
    ENSEMBL proteins: 
     ENSP00000358967   ENSP00000402493  
    Reactome Protein details: P04000

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    antibodies-online proteins for OPN1LW (7 products) 

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

    5 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001760 Opsin
     IPR000378 Opsin_red/grn
     IPR027430 Retinal_BS
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P04000

    ProtoNet protein and cluster: P04000

    2 Blocks protein domains:
    IPB000378 Red/green-sensitive opsin signature
    IPB001760 Opsin


    UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000
    Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily


    Find genes that share domains with OPN1LW           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OPSR_HUMAN, P04000
    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)=560 nm;

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0009881photoreceptor activity IEA--
         
    Find genes that share ontologies with OPN1LW           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for OPN1LW:
     Increased circadian period len  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for OPN1LW

    miRNA
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    miRTarBase miRNAs that target OPN1LW:
    hsa-mir-335-5p (MIRT018519)

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    1 qRT-PCR Assays for microRNA that regulate OPN1LW:
    hsa-miR-3926
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OPSR_HUMAN, P04000: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9860863
    GO:0016021integral component of membrane ----
    GO:0042622photoreceptor outer segment membrane TAS--

    Find genes that share ontologies with OPN1LW           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OPN1LW About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.44
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.43
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    The retinoid cycle in cones (daylight vision)0.00
    Diseases associated with visual transduction0.43
    Retinoid cycle disease events0.00
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Opsins
    Opsins
    5Disease
    Disease


    Find genes that share SuperPaths with OPN1LW           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for OPN1LW
        GPCRs, Class A Rhodopsin-like

    4 Reactome Pathways for OPN1LW
        The retinoid cycle in cones (daylight vision)
    Retinoid cycle disease events
    G alpha (i) signalling events
    Opsins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OPN1LW
    Interactions:

        GeneGlobe Interaction Network for OPN1LW

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for OPN1LW (P040003 ENSP000003589674) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANBP2P497923, ENSP000002831954I2D: score=2 STRING: ENSP00000283195
    NCOA2Q155963, ENSP000003999684I2D: score=1 STRING: ENSP00000399968
    PIAS3Q9Y6X23, ENSP000003767654I2D: score=1 STRING: ENSP00000376765
    TICAM2Q86XR73, ENSP000003863414I2D: score=1 STRING: ENSP00000386341
    TMED7Q9Y3B33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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 ----

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OPN1LW (OPSR)

    2 Novoseek inferred chemical compound relationships for OPN1LW gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choline 35.6 2 15895092 (2)
    calcium 0 2 2029536 (1), 11574661 (1)



    Find genes that share compounds with OPN1LW           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OPN1LW gene: 
    NM_020061.5  

    Unigene Cluster for OPN1LW:

    Opsin 1 (cone pigments), long-wave-sensitive
    Hs.592247  [show with all ESTs]
    Unigene Representative Sequence: CR749814
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369951(uc004fjz.4) ENST00000463296 ENST00000442922
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat OPN1LW

    Additional mRNA sequence: CR749814.1 

    1 DOTS entry:

    DT.436489 

    Selected AceView cDNA sequences (see all 28):

    BQ637240 NM_020061 BM704021 BV167401 AW950066 BV167402 BV183301 CR749814 
    BV182703 BV183300 T27896 BV183299 BQ638223 BV183302 BQ638605 BV167404 
    BV167405 BV182704 BQ639996 BV183303 BV181076 BV167403 BV181233 BV181234 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OPN1LW expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    OPN1LW Expression
    About this image


    OPN1LW expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature L Cone Cells Outer Nuclear Layer
             Photoreceptor-like cells
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
     
     Neurons
             Mature L Cone Cells Outer Nuclear Layer
    OPN1LW Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OPN1LW Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592247

    UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000
    Tissue specificity: The three color pigments are found in the cone photoreceptor cells

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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for OPN1LW gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Opn1lw5
    Opn1mw1
    opsin 1 (cone pigments), long-wave-sensitive5
    opsin 1 (cone pigments), medium-wave-sensitive (color more1
    86.83(n)1
    88.24(a)1
      X5
    145391  NM_008106.21  NP_032132.11 
    chicken
    (Gallus gallus)
    Aves OPN1LW1 opsin 1 (cone pigments), long-wave-sensitive (color more 78.8(n)
    86.98(a)
      396421  NM_205440.1  NP_990771.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Red-sensitive opsin
    82(a)
    1 → many
    2(88664911-88668635)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.318702 Xenopus laevis red-sensitive cone opsin mRNA, complete more 77.55(n)    U90895.1 
    zebrafish
    (Danio rerio)
    Actinopterygii opn1lw12 opsin 1 (cone pigments), long-wave-sensitive, 1 77.83(n)   30413  AF109371.1 


    ENSEMBL Gene Tree for OPN1LW (if available)
    TreeFam Gene Tree for OPN1LW (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OPN1LW gene
    OPN32  RGR2  OPN1MW22  OPN42  OPN1MW2  OPN1SW2  RHO2  RRH2  
    OPN52  
    7 SIMAP similar genes for OPN1LW using alignment to 2 protein entries:     OPSR_HUMAN (see all proteins):
    DKFZp781I1948    OPN1MW    OPN1MW2    OPN1SW    RHO    OPN4
    RRH

    Find genes that share paralogs with OPN1LW           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OPN1LW (see all 157)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0640544
    Colorblindness, partial, protan series (CBP)4--see VAR_0640542 G E mis40--------
    VAR_0092984
    Blue cone monochromacy (BCM)4--see VAR_0092982 C R mis40--------
    VAR_0092994
    Blue cone monochromacy (BCM)4--see VAR_0092992 P L mis40--------
    rs9494311,2,,4
    C,Fnon-pathogenic1153418541(+) TCTGGG/TCTGCT 4 A S mis13Minor allele frequency- T:0.38MN NS NA 254
    rs1214346211,2
    Cpathogenic1153420077(+) CTTCAC/TGCGGC 4 R C mis10--------
    rs1048949121,2
    Cpathogenic1153420209(+) CCATCC/TGAGCG 4 R * stg10--------
    rs1455105461,2
    --153407928(+) TACGTG/TTAACT 2 -- us2k10--------
    rs123971271,2
    C,F,H--153407940(+) ttggaG/Tgagct 2 -- us2k18Minor allele frequency- T:0.22NS NA CSA 967
    rs123971281,2
    C--153407941(+) tggagA/Gagctg 2 -- us2k10--------
    rs1890815991,2
    --153408062(+) CTCCCC/GTGTCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for OPN1LW (153409698 - 153424507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for OPN1LW:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7161CNV Loss18451855
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407
    esv27518CNV Gain+Loss19812545
    nsv515186CNV Complex21397061

    Human Gene Mutation Database (HGMD): OPN1LW
    Locus Specific Mutation Databases (LSDB): OPN1LW

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300822   
    OMIM disorders: 303900  303700  
    UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000
  • Colorblindness, partial, protan series (CBP) [MIM:303900]: A color vision defect characterized by a
    dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves
    toward the short wave end 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for OPN1LW:    
    About MalaCards
    colorblindness, protan    osteonecrosis    blue cone monochromatism    red-green color vision defects
    blue cone monochromacy    cone dystrophy    thyroid hormone resistance syndrome    color blindness
    cone-rod dystrophy 2    alpha 1-antitrypsin deficiency

    2 diseases from the University of Copenhagen DISEASES database for OPN1LW:
    Blue cone monochromacy     Thyroid hormone resistance syndrome

    Find genes that share disorders with OPN1LW           About GenesLikeMe

    GeneTests: OPN1LW
    GeneReviews: OPN1LW
    Genetic Association Database (GAD): OPN1LW
    Human Genome Epidemiology (HuGE) Navigator: OPN1LW (3 documents)

    Export disorders for OPN1LW 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)
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    PubMed articles for OPN1LW gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with OPN1LW)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Ophthalmology 2011)
    2. Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population. (PubMed id 20075512)1, 4 Maver A....Peterlin B. (Dis. Markers 2009)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PubMed id 12051694)1, 2 Ueyama H.... Yamade S. (Biochem. Biophys. Res. Commun. 2002)
    5. Genetic heterogeneity among blue-cone monochromats. (PubMed id 8213841)1, 2 Nathans J.... Heckenlively J.R. (Am. J. Hum. Genet. 1993)
    6. Polymorphism in red photopigment underlies variation in colour matching. (PubMed id 1557123)1, 2 Winderickx J....Deeb S.S. (Nature 1992)
    7. Molecular biology of the visual pigments. (PubMed id 3303660)1, 2 Applebury M.L. and Hargrave P.A. (Vision Res. 1986)
    8. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PubMed id 2937147)1, 2 Nathans J.... Hogness D.S. (Science 1986)
    9. Signatures of selection and gene conversion associated with human color vision variation. (PubMed id 15252758)1, 9 Verrelli B.C. and Tishkoff S.A. (Am. J. Hum. Genet. 2004)
    10. Gene conversion between red and defective green opsin gene in blue cone monochromacy. (PubMed id 8666378)2, 9 Reyniers E.... Willems P.J. (Genomics 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5956 HGNC: 9936 AceView: OPN1LW Ensembl:ENSG00000102076 euGenes: HUgn5956
    ECgene: OPN1LW H-InvDB: OPN1LW

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OPN1LW Pharmacogenomics, SNPs, Pathways
    Mutations of the color pigment geneshttp://www.retina-international.org/files/sci-news/cppmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OPN1LW[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OPN1LW gene:
    Search GeneIP for patents involving OPN1LW

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



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