OPN1MW2 Gene
protein-coding GIFtS: 43
GCID: GC0XP153485
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opsin 1 (cone pigments), medium-wave-sensitive 2
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Aliases for OPN1MW2 gene
(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 |
Export aliases for OPN1MW2 gene to outside databasesPrevious GC identifers: GC0XU900626 GC0XP153138 |
Summaries for OPN1MW2 gene(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 greencone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seventransmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelengthopsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome andfrequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusionsof the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene arethe cause of deutanopic colorblindness. (provided by RefSeq, Mar 2009) UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,covalently linked to cis-retinal
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Genomic Views for OPN1MW2 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 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
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: Xq28OPN1MW2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP153485: view genomic region
(about GC identifiers)
Start:
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153,485,203 bp from pter |
End:
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153,498,755 bp from pter |
Size:
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13,553 bases |
Orientation:
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plus strand |
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Proteins for OPN1MW2 gene
(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 PhosphoSitePlus2View neXtProt modification sites for NX_P04001 OPN1MW2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001041646.1 ENSEMBL proteins: ENSP00000358945 ENSP00000403023 Reactome Protein details: P04001 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
OPN1MW2 for ontologies About GeneDecksing
OPN1MW2 Antibody Products: Assay Products for OPN1MW2: |
Protein
Domains / Families for OPN1MW2 gene(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:Graphical View of Domain Structure for InterPro Entry P04001ProtoNet protein and cluster: P04001 2 Blocks protein families: IPB000378 Red/green-sensitive opsin signature IPB001760 Opsin
UniProtKB/Swiss-Prot: OPSG_HUMAN, P04001Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily |
Function for OPN1MW2 gene
(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, P04001Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,covalently linked to cis-retinalBiophysicochemical properties: Absorption: Abs(max)=530 nm;
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1MW2 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1MW2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: OPN1MW2 (NM_001048181) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPN1MW2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat OPN1MW2  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1MW2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004930 | G-protein coupled receptor activity |
IEA | -- | | GO:0009881 | photoreceptor activity |
IEA | -- |
OPN1MW2 for ontologies About GeneDecksing
|
Pathways & Interactions for OPN1MW2 gene
(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 6) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Defective OPN1LW causes CBP | | | 2 | Class A/1 (Rhodopsin-like receptors) | | | 3 | Signaling by GPCR | | | 4 | Retinoid metabolism and transport | | | 5 | Opsins | |
Pathway sources See GeneCards unified pathways Show all pathways
1 BioSystems Pathway for OPN1MW2 
5/15
Reactome Pathways for OPN1MW2 (see all 15)
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 I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
OPN1MW2 for ontologies About GeneDecksing
|
Drugs & Compounds for OPN1MW2 gene(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 Tocris compounds for OPN1MW2 Search CenterWatch for drugs/clinical trials and news about OPN1MW2 / OPSG 
|
Transcripts for OPN1MW2 gene(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_0010481813 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000369929(uc004fkd.3) ENST00000488220 ENST00000430419
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1MW2 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1MW2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: OPN1MW2 (NM_001048181) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPN1MW2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat OPN1MW2  |
1 DOTS entry: DT.436489 GeneLoc Exon Structure
|
Expression for OPN1MW2 gene
(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
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, P04001Tissue specificity: The three color pigments are found in the cone photoreceptor cells SABiosciences Custom PCR Arrays for OPN1MW2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPN1MW2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OPN1MW2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1MW2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1MW2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1MW2 |
Orthologs for OPN1MW2 gene
(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
ENSEMBL Gene Tree for OPN1MW2 (if available) TreeFam Gene Tree for OPN1MW2 (if available)  |
Paralogs for OPN1MW2 gene(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
|
Genomic Variants for OPN1MW2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
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  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPN1MW2 |
|
Disorders
/ Diseases for OPN1MW2 gene
(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 asdeuteranopia Defects in OPN1MW are a cause of blue cone monochromacy (BCM) [MIM:303700]. A rare X-linked congenitalstationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and mediumwavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derivedfrom 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. Conedystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors withpreservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in somecone 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 dystrophiesare distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs 12 diseases for OPN1MW2: About MalaCardscolorblindness, 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
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Publications for OPN1MW2 gene (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 |
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- 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)
- 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)
- Molecular biology of the visual pigments. (PubMed id 3303660)1, 2 Applebury M.L. and Hargrave P.A. (1986)
- 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)
- Expressions of rod and cone photoreceptor-like protei ns in human epidermis. (PubMed id 19493002)1 Tsutsumi M....Denda M. (2009)
- Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors. (PubMed id 18240029)1 Luttrell L.M. (2008)
- 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)
- Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PubMed id 12051694)2 Ueyama H....Yamade S. (2002)
- 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)
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External Searches for OPN1MW2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing OPN1MW2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing OPN1MW2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OPN1MW2 gene(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
|
| Name | Description |
| PharmGKB entry for OPN1MW2 | Pharmacogenomics, SNPs, Pathways | | Mutations of the color pigment genes | http://www.retina-international.org/files/sci-news/cppmut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPN1MW |
|
| | |
About This Section
| 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
|
Products for OPN1MW2 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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 About This Section
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OPN1MW2 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPN1MW2 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPN1MW2 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPN1MW2 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1MW2 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1MW2 |
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