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

OPN1MW2 Gene

protein-coding   GIFtS: 43
GCID: GC0XP153485

opsin 1 (cone pigments), medium-wave-sensitive 2

 Explore 12 diseases affiliated with
OPN1MW2 via our new
 Human Malady Compendium 
Biological research products
for OPN1MW2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 21 2
Green Cone Photoreceptor Pigment2 3
Green-Sensitive Opsin2 3
GOP2 3
Medium-Wave-Sensitive Opsin 12
GCP3

External Ids:    HGNC: 269521   Entrez Gene: 7284582   Ensembl: ENSG000001661607   UniProtKB: P040013   

Export aliases for OPN1MW2 gene to outside databases

Previous GC identifers: GC0XU900626 GC0XP153138


(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 OPN1MW2:
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)

UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001
Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,
covalently linked to cis-retinal




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPN1MW2 gene promoter:
         ER-alpha   AML1a   C/EBPalpha   GATA-1   GATA-2   CREB   MZF-1   deltaCREB   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for OPN1MW2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPN1MW2


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

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

OPN1MW2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPN1MW2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153485:  view genomic region     (about GC identifiers)

Start:
153,485,203 bp from pter      End:
153,498,755 bp from pter
Size:
13,553 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001 (See protein sequence)
Recommended Name: Medium-wave-sensitive opsin 1  
Size: 364 amino acids; 40584 Da
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for OPN1MW2:
1KPW (3D)    

Explore the universe of human proteins at neXtProt for OPN1MW2: NX_P04001

Post-translational modifications:

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04001

  • OPN1MW2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001041646.1  
    ENSEMBL proteins: 
     ENSP00000358945   ENSP00000403023  
    Reactome Protein details: P04001
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2937147


    OPN1MW2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    OPN1MW2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001760 Opsin
     IPR000378 Opsin_red/grn
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P04001

    ProtoNet protein and cluster: P04001

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


    UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001
    Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001
    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)=530 nm;

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0009881photoreceptor activity IEA--


    OPN1MW2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Defective OPN1LW causes CBP
    Defective OPN1LW causes CBP1.00
    The retinoid cycle in cones (daylight vision)0.50
    Defective OPN1LW causes BCM1.00
    Retinoid cycle disease events0.33
    Defective OPN1SW causes tritanopia0.50
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)1.00
    G alpha (i) signalling events0.44
    GPCR ligand binding0.75
    GPCRs, Class A Rhodopsin-like0.41
    3Signaling by GPCR
    Signaling by GPCR1.00
    Signal Transduction0.56
    GPCR downstream signaling0.89
    4Retinoid metabolism and transport
    Visual phototransduction0.74
    Diseases associated with visual transduction0.73
    5Opsins
    Opsins1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for OPN1MW2 
        GPCRs, Class A Rhodopsin-like

    5/15        Reactome Pathways for OPN1MW2 (see all 15)
        Diseases associated with visual transduction
    GPCR downstream signaling
    The retinoid cycle in cones (daylight vision)
    Retinoid cycle disease events
    Signaling by GPCR



    OPN1MW2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OPN1MW2

    2 Interacting proteins for OPN1MW2 (P040013) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARR3P365753I2D: score=1 
    RANBP2P497923I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway TAS2937147
    GO:0007601visual perception IEA--
    GO:0007602phototransduction IEA--
    GO:0018298protein-chromophore linkage IEA--


    OPN1MW2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OPN1MW2
    Search CenterWatch for drugs/clinical trials and news about OPN1MW2 / OPSG 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OPN1MW2 gene: 
    NM_001048181.2  

    Unigene Cluster for OPN1MW2:

    Opsin 1 (cone pigments), medium-wave-sensitive 2
    Hs.571751  [show with all ESTs]
    Unigene Representative Sequence: NM_001048181
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369929(uc004fkd.3) ENST00000488220 ENST00000430419

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    hsa-miR-3926
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    1 DOTS entry:

    DT.436489 

    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

    OPN1MW2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGTCTGCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See OPN1MW2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPN1MW2

    SOURCE GeneReport for Unigene cluster: Hs.571751

    UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OPN1MW2 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OPN1LW6
    pinopsin
    46(a)
    possible ortholog
    19(6999227-7002022)
    lizard
    (Anolis carolinensis)
    Reptilia OPSR_ANOCA6
    --
    (see all 4)
    --
    80(a)
    52(a)
    (see all 4)
    1 ↔ many
    possible ortholog
    (see all 4)
    2(88664911-88668635)
    AAWZ02040148(1849-6661)
    zebrafish
    (Danio rerio)
    Actinopterygii opn1lw16
    opn1lw26
    (see all 4)
    opsin 1 (cone pigments), long-wave-sensitive, 2
    (see all 4)
    77(a)
    77(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    11(26411202-26413596)
    11(26414605-26416765)
    honey bee
    (Apis mellifera)
    Insecta --
    Pteropsin
    24(a)
    1 → many
    Group9.2(283911-292747)


    ENSEMBL Gene Tree for OPN1MW2 (if available)
    TreeFam Gene Tree for OPN1MW2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OPN1MW2 gene
    OPN1MW1 2  OPN32  OPN1SW2  RHO2  RGR2  OPN42  RRH2  OPN1LW2  
    OPN52  
    7 SIMAP similar genes for OPN1MW2 using alignment to 2 protein entries:     OPSG_HUMAN (see all proteins):
    DKFZp781I1948    OPN1LW    OPN1MW    OPN1SW    RHO    RRH
    OPN4

    OPN1MW2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/27 NCBI SNPs in OPN1MW2 are shown (see all 27    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1436667001,2
    F--153490564(+) GACCTG/AGCAGA 2 /L syn11Minor allele frequency- A:0.00NA 3762
    rs1381830151,2
    C,F--153490611(+) GGTCTA/CTGGCT 2 Y S mis11Minor allele frequency- C:0.00NA 4084
    rs1416835321,2
    --153492493(+) ATTTCA/CAGTGT 1 -- int10--------
    rs1420764591,2
    C--153492772(+) CATTGC/TCTTCT 2 A V mis10--------
    rs1461892391,2
    C--153492783(+) CCTGGA/GTCTGG 2 I V mis10--------
    rs1391634061,2
    C--153492789(+) TCTGGG/TCTGCT 2 A S mis10--------
    rs10654301,2
    C--153496095(+) TGGTCC/TTGGCA 2 L syn11Minor allele frequency- T:0.00NA 2
    rs10654321,2
    F--153496097(+) GTCCTG/TGCATT 2 L syn11Minor allele frequency- T:0.14NS 14
    rs10654361,2
    F--153496107(+) TCTGCT/GTCTGC 2 /V /F mis1 ese31Minor allele frequency- G:0.18NS 78
    rs10654381,2
    C,F--153496125(+) CCTACG/ACCTTC 2 /T /A mis1 ese31Minor allele frequency- A:0.00NA 4098

    HapMap Linkage Disequilibrium report for OPN1MW2 (153485203 - 153498755 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for OPN1MW2
         4 CNVs: 97108 83868 37014 74085

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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.)
    About This Section

    OPN1MW2 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001
  • Defects in OPN1MW are the cause of partial colorblindness deutan series (CBD) [MIM:303800]; also known as
  • deuteranopia
  • Defects in OPN1MW are a cause of 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
  • Defects in OPN1MW are a cause of cone dystrophy type 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

    12 diseases for OPN1MW2:    About MalaCards
    colorblindness, deutan    blue cone monochromacy    cone-rod dystrophy    color vision deficiency
    color blindness    beta thalassemia    cone dystrophy    nystagmus
    myopia    blindness    thalassemia    retinitis

    2 diseases from the University of Copenhagen DISEASES database for OPN1MW2:
    Blue cone monochromacy     Thyroid hormone resistance syndrome

    Export disorders for OPN1MW2 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 OPN1MW2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with OPN1MW2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    2. Defective colour vision associated with a missense mutation in the human green visual pigment gene. (PubMed id 1302020)1, 2 Winderickx J....Deeb S.S. (1992)
    3. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PubMed id 2937147)1, 2 Nathans J.... Hogness D.S. (1986)
    4. Molecular biology of the visual pigments. (PubMed id 3303660)1, 2 Applebury M.L. and Hargrave P.A. (1986)
    5. X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PubMed id 20579627)2 Gardner J.C....Hardcastle A.J. (2010)
    6. Expressions of rod and cone photoreceptor-like protei ns in human epidermis. (PubMed id 19493002)1 Tsutsumi M....Denda M. (2009)
    7. Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors. (PubMed id 18240029)1 Luttrell L.M. (2008)
    8. GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina. (PubMed id 12853434)1 Zhu X....Craft C.M. (2003)
    9. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PubMed id 12051694)2 Ueyama H....Yamade S. (2002)
    10. Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. (PubMed id 10319869)1 Hayashi T....Deeb S.S. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 728458 HGNC: 26952 Ensembl:ENSG00000166160 euGenes: HUgn728458 ECgene: OPN1MW2
    H-InvDB: OPN1MW2

    (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 OPN1MW2 Pharmacogenomics, SNPs, Pathways
    Mutations of the color pigment geneshttp://www.retina-international.org/files/sci-news/cppmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPN1MW

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OPN1MW2 gene:
    Search GeneIP for patents involving OPN1MW2

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



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