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RHO Gene

protein-coding   GIFtS: 66
GCID: GC03P129247

Rhodopsin

(Previous names: retinitis pigmentosa 4, autosomal dominant)
(Previous symbol: RP4)
  See RHO-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
rhodopsin1 2     Retinitis Pigmentosa 4, Autosomal Dominant1
RP41 2 5     Rod Pigment1
OPN22 3 5     Opsin 2, Rod Pigment2
CSNBAD12 5     opsin-22
Opsin 21     Opsin-23

External Ids:    HGNC: 100121   Entrez Gene: 60102   Ensembl: ENSG000001639147   OMIM: 1803805   UniProtKB: P081003   

Export aliases for RHO gene to outside databases

Previous GC identifers: GC03P126073 GC03P129884 GC03P130529 GC03P130568 GC03P130730 GC03P126630


(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 RHO Gene:
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western
communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder.
In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have
mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane
protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of
the causes of congenital stationary night blindness. (provided by RefSeq, Jul 2008)

GeneCards Summary for RHO Gene:
RHO (rhodopsin) is a protein-coding gene. Diseases associated with RHO include retinitis pigmentosa 4, autosomal dominant or recessive, and xerophthalmia. 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: OPSD_HUMAN, P08100
Function: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell
viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational
change leading to G-protein activation and release of all-trans retinal

Gene Wiki entry for RHO (Rhodopsin) 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_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RHO gene promoter:
         c-Fos   c-Rel   AP-1   ATF-2   c-Jun   NF-kappaB   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHO promoter sequence
   Search Chromatin IP Primers for RHO

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


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

Entrez Gene cytogenetic band: 3q21-q24   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q21-q24

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P129247:  view genomic region     (about GC identifiers)

Start:
129,247,482 bp from pter      End:
129,254,187 bp from pter
Size:
6,706 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100 (See protein sequence)
Recommended Name: Rhodopsin  
Size: 348 amino acids; 38893 Da
Subunit: Homodimer (By similarity)
Secondary accessions: Q16414 Q2M249

Explore the universe of human proteins at neXtProt for RHO: NX_P08100

Explore proteomics data for RHO at MOPED

Post-translational modifications: 

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region1
  • Contains one covalently linked retinal chromophore (By similarity)1
  • Glycosylation2 at Asn2, Asn15
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000530.1  
    ENSEMBL proteins: 
     ENSP00000296271  
    Reactome Protein details: P08100

    RHO Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RHO

     
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    RHO Antibody Products:

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    Abcam antibodies for RHO (P08134, P08100)
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    Browse Enzo Life Sciences for kits & assays
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    Search eBioscience for ELISAs for RHO 


    (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

    Selected InterPro protein domains (see all 6):
     IPR019477 Rhodopsin_N
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000732 Rhodopsin
     IPR001760 Opsin
     IPR027430 Retinal_BS

    Graphical View of Domain Structure for InterPro Entry P08100

    ProtoNet protein and cluster: P08100

    2 Blocks protein domains:
    IPB000732 Rhodopsin signature
    IPB001760 Opsin


    UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100
    Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily


    Find genes that share domains with RHO           About GenesLikeMe


    (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,
    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: OPSD_HUMAN, P08100
    Function: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell
    viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational
    change leading to G-protein activation and release of all-trans retinal
    Biophysicochemical properties: Absorption: Abs(max)=495 nm;

         Genatlas biochemistry entry for RHO:
    rhodopsin,G protein coupled receptor superfamily,visual pigment of the rod cells of retina

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005515protein binding IPI17693260
    GO:0009881photoreceptor activity IEA--
    GO:0016918retinal binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with RHO           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RHO:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Rho):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system  no phenotypic analysis  pigmentation  vision/eye 

    Find genes that share phenotypes with RHO           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RHO: Rhotm2Jlem Rhotm1Jlem Rhotm1Phm Rhotm1Jhw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RHO
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RHO

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat RHO using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RHO (see all 50):
    hsa-miR-302d hsa-miR-520e hsa-miR-136 hsa-miR-99b* hsa-miR-106a hsa-miR-4305 hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRHO 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RHO
    Predesigned siRNA for gene silencing in human, mouse, rat RHO

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for RHO (see all 5)
    OriGene ORF clones in mouse, rat for RHO
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    GenScript: all cDNA clones in your preferred vector: RHO (NM_001664)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHO

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    eBioscience FlowRNA Probe Sets ( VA1-13804 VF1-13802) for RHO 


    (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
    OPSD_HUMAN, P08100: Membrane; Multi-pass membrane protein. Note=Synthesized in the inner segment (IS) of rod
    photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    nucleus2
    endosome1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA11767049
    GO:0001917photoreceptor inner segment IDA11767049
    GO:0005794Golgi apparatus IDA11767049
    GO:0005886plasma membrane IDA--
    GO:0005887integral component of plasma membrane TAS8253795

    Find genes that share ontologies with RHO           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 RHO About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Activation of the phototransduction cascade0.00
    Phototransduction0.51
    2Peptide 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
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    5the visual cycle I (vertebrates)
    The canonical retinoid cycle in rods (twilight vision)0.44


    Find genes that share SuperPaths with RHO           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RHO
        Visual Cycle in Retinal Rods

    1 Cell Signaling Technology (CST) Pathway for RHO
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for RHO
        Retinol metabolism

    5 BioSystems Pathways for RHO
        Integrin-mediated cell adhesion
    Integrated Breast Cancer Pathway
    GPCRs, Class A Rhodopsin-like
    Visual signal transduction- Rods
    Regulation of Microtubule Cytoskeleton

    5 Reactome Pathways for RHO
        Activation of the phototransduction cascade
    G alpha (i) signalling events
    The canonical retinoid cycle in rods (twilight vision)
    Opsins
    Inactivation, recovery and regulation of the phototransduction cascade


    1 Kegg Pathway  (Kegg details for RHO):
        Phototransduction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RHO: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RHO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RHO (P081001, 3 ENSP000002962714) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZFYVE9O954051, 3, ENSP000002877274EBI-1394177,EBI-296817 I2D: score=1 STRING: ENSP00000287727
    GNGT1P632113, ENSP000002485724I2D: score=1 STRING: ENSP00000248572
    GRK6P432503, ENSP000003772044I2D: score=1 STRING: ENSP00000377204
    GRK1Q158353, ENSP000003348764I2D: score=2 STRING: ENSP00000334876
    GRK5P349473, ENSP000003766094I2D: score=2 STRING: ENSP00000376609
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006468protein phosphorylation IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS2218504
    GO:0007601visual perception IEA--
    GO:0007602phototransduction ----

    Find genes that share ontologies with RHO           About GenesLikeMe



    (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 RHO (OPSD)

    Selected DrugBank Compounds for RHO (see all 14)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-[Aminoethylphosphoryl]-[1,2-Di-Palmitoyl]-Sn-Glycerol-- --target--17139284 17016423 10592235
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    Beta-D-Mannose-- 7322-31-8target--17139284 17016423 10592235
    Heptane-1,2,3-Triol-- --target--17139284 17016423 10592235
    Hexadecanal16-Hexadecanal (see all 7)629-80-1target--17139284 17016423 10592235
    Palmitic Acid1-Hexyldecanoic Acid (see all 11)57-10-3target--17139284 17016423 10592235
    Phosphonoserine-- --target--17139284 17016423 10592235
    Phosphonothreonine-- --target--17139284 17016423 10592235
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetother11157886 10913255
    (Hydroxyethyloxy)Tri(Ethyloxy)Octane-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for RHO gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metarhodopsin ii 96.3 232 8446607 (5), 8001180 (4), 16414074 (4), 10529192 (4) (see all 99)
    bathorhodopsin 89.1 34 19787771 (4), 7827090 (4), 19192210 (2), 18177030 (2) (see all 12)
    bacteriorhodopsin 85.9 164 8038384 (5), 19222795 (4), 17176057 (3), 16285719 (3) (see all 84)
    phosphorhodopsin 85.3 7 17848565 (2), 8386638 (1), 9188704 (1)
    beta-ionone 84 17 1330032 (3), 11722553 (1), 11316815 (1), 12616639 (1) (see all 12)
    lumirhodopsin 82 21 7480145 (3), 1991105 (3), 11425321 (2), 14997522 (2) (see all 10)
    iodopsin 72.9 10 10370152 (2), 16430225 (2), 2226824 (1), 2268324 (1) (see all 7)
    retinochrome 71 6 1541344 (3), 7593753 (1), 12815237 (1), 12499666 (1)
    11-cis-retinol 69.4 4 14750596 (1), 18563917 (1), 12671074 (1), 11852972 (1)
    gdp 68 36 2229054 (4), 8810308 (3), 8567690 (1), 16815918 (1) (see all 26)



    Find genes that share compounds with RHO           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 RHO gene: 
    NM_000539.3  

    Unigene Cluster for RHO:

    Rhodopsin
    Hs.247565  [show with all ESTs]
    Unigene Representative Sequence: NM_000539
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000296271(uc003emt.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RHO (see all 50):
    hsa-miR-302d hsa-miR-520e hsa-miR-136 hsa-miR-99b* hsa-miR-106a hsa-miR-4305 hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRHO 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RHO
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RHO (NM_001664)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHO
    Primer
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    OriGene qPCR primer pairs and template standards for RHO
    OriGene qSTAR qPCR primer pairs in human, mouse for RHO
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    eBioscience FlowRNA Probe Sets ( VA1-13804 VF1-13802) for RHO 

    Additional mRNA sequence: 

    BC112104.1 BC112106.1 BX537381.1 

    8 DOTS entries:

    DT.97807925  DT.97855530  DT.100033364  DT.100789757  DT.100033363  DT.100033368  DT.100789750  DT.92412136 

    Selected AceView cDNA sequences (see all 364):

    BQ637710 BQ639637 BM662103 BQ638494 BQ635858 BX491528 BQ638184 BU728273 
    C20752 BQ639239 BQ636420 BM694684 BQ636996 BQ637936 AA019440 BQ638380 
    BQ637369 BQ640073 BM704430 BU726836 BQ640647 BQ636632 BQ635935 BQ637553 

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


    RHO 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 9 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             Optic cup structures
     
     NULL (Sensory Organs)    fully expand to see all 5 entries
             Retina-like cells
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    RHO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.247565

    UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100
    Tissue specificity: Rod shaped photoreceptor cells which mediates vision in dim light

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RHO: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              Cell Motility in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RHO
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    QuantiFast Probe-based Assays in human, mouse, rat RHO
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO

    (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 RHO gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rho1 , 5 rhodopsin1, 5 88.31(n)1
    94.83(a)1
      6 (53.72 cM)5
    2125411  NM_145383.11  NP_663358.11 
     1159319275 
    chicken
    (Gallus gallus)
    Aves RHO1 rhodopsin 83.72(n)
    86.49(a)
      751791  NM_001030606.1  NP_001025777.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHO6
    rhodopsin
    81(a)
    1 ↔ 1
    GL343273.1(641352-649511)
    African clawed frog
    (Xenopus laevis)
    Amphibia rho-prov2 rhodopsin 78.28(n)    L07770.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rho2 rhodopsin 80.8(n)   30295  BC045288.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RHO gene
    OPN32  RGR2  OPN1MW22  OPN42  OPN1LW2  OPN1MW2  OPN1SW2  RRH2  
    OPN52  
    8 SIMAP similar genes for RHO using alignment to 1 protein entry:     OPSD_HUMAN:
    OPN1SW    DKFZp781I1948    OPN1LW    OPN1MW    OPN1MW2    OPN4
    RRH    OPN3

    Find genes that share paralogs with RHO           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 RHO (see all 361)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048937701,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129230873(+) ACATGC/TTTCTG 2 L F mis10--------
    rs289333951,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129230898(+) CTTCCC/GCATCA 2 P R mis1 ese30--------
    rs289333941,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129230913(+) CCTCAC/G/TGCTCT 2 T R mis1 ese31NA 4552
    rs289339931,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129234359(+) GGTCCA/CCTTCA 2 H P mis1 ese30--------
    rs290016531,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129234729(+) TTGCCA/GAGAGC 2 K E mis10--------
    rs290016371,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129235717(+) TGGCCC/TCGGCC 2 P S mis10--------
    rs290015661,2,,4
    CRetinitis pigmentosa 4 (RP4)4 pathogenic1129235718(+) GGCCCA/C/G/
            
    GGCCT
    4 Q P R L mis10--------
    VAR_0047954
    Retinitis pigmentosa 4 (RP4)4--see VAR_0047952 R G mis40--------
    VAR_0048274
    Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)4--see VAR_0048272 A E mis40--------
    VAR_0048054
    Retinitis pigmentosa 4 (RP4)4--see VAR_0048052 P S mis40--------

    HapMap Linkage Disequilibrium report for RHO (129247482 - 129254187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RHO:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5254n71CNV Loss21882294
    dgv5255n71CNV Loss21882294
    nsv822251CNV Loss20364138
    nsv3998CNV Loss18451855

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RHO
    DNA2.0 Custom Variant and Variant Library Synthesis for RHO

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 180380   
    OMIM disorders: 613731  610445  136880  
    UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100
  • Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive
    retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for RHO (see all 26):    
    About MalaCards
    retinitis pigmentosa 4, autosomal dominant or recessive    xerophthalmia    rho-related retinitis pigmentosa    hereditary retinal dystrophy
    congenital stationary night blindness, autosomal dominant 1    keratomalacia    retinitis pigmentosa 4    cystoid macular edema
    cancer-associated retinopathy    hereditary nephrotic syndromes    autosomal dominant congenital stationary night blindness    retinal vascular occlusion
    fundus albipunctatus    pineocytoma    retinitis    blindness
    night blindness, congenital stationary , 1d, autosomal recessive    low tension glaucoma    night blindness    congenital stationary night blindness

    8 diseases from the University of Copenhagen DISEASES database for RHO:
    Retinitis pigmentosa     Night blindness     Blindness     Fundus dystrophy
    Leber congenital amaurosis     Age related macular degeneration     Keratomalacia     cone-rod dystrophy

    Find genes that share disorders with RHO           About GenesLikeMe

    Selected Novoseek inferred disease relationships for RHO gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 92.8 254 16565402 (4), 10476820 (3), 7635666 (3), 20238031 (3) (see all 99)
    retinal degeneration 86.7 76 12486400 (4), 7695903 (3), 2361011 (3), 7960587 (3) (see all 46)
    oguchis disease 86.3 13 12590588 (3), 8107847 (2), 12466267 (2), 8652533 (1) (see all 9)
    night blindness 83.3 11 11078833 (2), 16565402 (2), 12590588 (2), 8673138 (1) (see all 7)
    night blindness, congenital stationary 70.3 4 9702034 (1), 8317502 (1), 15877050 (1), 2280934 (1)
    retinopathy 65.9 16 14625696 (1), 15251955 (1), 9020854 (1), 15145060 (1) (see all 16)
    retinitis pigmentosa 1 65.5 3 8154871 (1), 18552984 (1)
    lebers congenital amaurosis 62.7 2 11139690 (1), 8317502 (1)
    keratomalacia 50.5 1 19892132 (1)
    cone-rod dystrophy 49.7 1 11139241 (1)

    Genetic Association Database (GAD): RHO
    Human Genome Epidemiology (HuGE) Navigator: RHO (77 documents)
    Tumor Gene Database (TGDB): RHO

    Export disorders for RHO 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 RHO gene, integrated from 10 sources (see all 1147):
    (articles sorted by number of sources associating them with RHO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (PubMed id 8554077)1, 2, 4, 9 Souied E.... Kaplan J. (Am. J. Ophthalmol. 1996)
    2. [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]. (PubMed id 16185528)1, 4, 9 Wang D.Y....Pang C.P. (Zhonghua Yi Xue Za Zhi 2005)
    3. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. (PubMed id 19506198)1, 4, 9 Lim K.P....To C.H. (Arch. Ophthalmol. 2009)
    4. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PubMed id 18552984)1, 4, 9 Gandra M.... Govindasamy K. (Mol. Vis. 2008)
    5. Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa. (PubMed id 17653048)1, 4, 9 Ando Y....Kato S. (Mol. Vis. 2007)
    6. Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. (PubMed id 7633434)1, 2, 9 Macke J.P.... Nathans J. (Hum. Mol. Genet. 1995)
    7. Dark-light: model for nightblindness from the human rhodopsin Gly- 90-->Asp mutation. (PubMed id 7846071)1, 2, 9 Sieving P.A....Alpern M. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    8. Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. (PubMed id 8076945)1, 2, 9 Reig C....Carballo M. (Hum. Genet. 1994)
    9. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. (PubMed id 8353500)1, 2, 9 Kranich H.... Gal A. (Hum. Mol. Genet. 1993)
    10. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. (PubMed id 8317502)1, 2, 9 Macke J.P.... Nathans J. (Am. J. Hum. Genet. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6010 HGNC: 10012 AceView: RHO Ensembl:ENSG00000163914 euGenes: HUgn6010
    ECgene: RHO Kegg: 6010 H-InvDB: RHO

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for RHO Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RHO Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the RHO genehttp://www.retina-international.org/files/sci-news/rhomut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RHO[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Rhodopsin

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

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



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