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

RHO Gene

protein-coding   GIFtS: 66
GCID: GC03P129247

Rhodopsin

(Previous names: retinitis pigmentosa 4, autosomal dominant)
(Previous symbol: RP4)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

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

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 xerophthalmia, and hereditary retinal dystrophy, and among its related super-pathways are The phototransduction cascade and Class A/1 (Rhodopsin-like receptors). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RHO

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

UniProtKB/Swiss-Prot: OPSD_HUMAN, P08100 (See protein sequence)
Recommended Name: Rhodopsin  
Size: 348 amino acids; 38893 Da
Subunit: Homodimer (By similarity)
Subcellular location: 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
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:

  • UniProtKB: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region
  • UniProtKB: Contains one covalently linked retinal chromophore (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08100

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

    RHO Protein Expression
    REFSEQ proteins: NP_000530.1  
    ENSEMBL proteins: 
     ENSP00000296271  
    Reactome Protein details: P08100
    Human Recombinant Protein Products for RHO: 
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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RHO 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (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 to plasma membrane TAS8253795

    RHO for ontologies           About GeneDecksing



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

    5/6 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


    RHO for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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--
         
    RHO for ontologies           About GeneDecksing


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

         9 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Rho):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system  no phenotypic analysis  pigmentation  vision/eye 

    RHO for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RHO 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidRHO 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHO


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

    SuperPaths for RHO About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual signal transduction- Rods
    Visual signal transduction- Rods0.54
    Phototransduction0.46
    The phototransduction cascade0.54
    Activation of the phototransduction cascade0.38
    Inactivation, recovery and regulation of the phototransduction cascade0.51
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.46
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.41
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    5Retinol metabolism
    Retinol metabolism0.95

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RHO
        Retinol metabolism

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/14        Reactome Pathways for RHO (see all 14)
        Diseases associated with visual transduction
    GPCR downstream signaling
    Signaling by GPCR
    The canonical retinoid cycle in rods (twilight vision)
    GPCR ligand binding


    1         Kegg Pathway  (Kegg details for RHO):
        Phototransduction


    RHO for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RHO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for RHO (P081001, 3 ENSP000002962714) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/15 biological process terms (GO ID links to tree view) (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 ----

    RHO for ontologies           About GeneDecksing



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

    RHO for compounds           About GeneDecksing

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

    Browse Tocris compounds for RHO (OPSD)

    10/14 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

    10/84 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)

    Search CenterWatch for drugs/clinical trials and news about RHO / OPSD

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

    REFSEQ mRNAs for 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/364 AceView cDNA sequences (see all 364):

    BQ636018 AA019440 BU726836 BM662103 AL712816 BM688393 BQ638214 BQ639818 
    BM662863 BM663696 BQ636862 BQ638454 BQ635861 BU728186 BQ637803 BM662906 
    BU731182 BQ640660 BQ186551 BQ638380 BQ635935 BQ637553 BQ637684 BU732105 

    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

    RHO expression in normal human tissues (normalized intensities)      RHO embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             retina   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical vein endothelial cells Umbilical Veins
             umbilical cord reticulocytes   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Endothelium (Cardiovascular System)
             Umbilical vein endothelial cells Umbilical Veins

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

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including RHO: 
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              G Protein Coupled Receptors 384HT in human mouse rat
              Cell Motility in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RHO gene from 5/13 species (see all 13)    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 83.43(n)
    86.49(a)
      751791  NM_001030606.1  NP_001025777.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHO6
    RH26
    (see all 3)
    Blue-sensitive opsin
    (see all 3)
    81(a)
    68(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    GL343273.1(641352-649511)
    4(122808390-122826851)
    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)
    About This Section
    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

    RHO for paralogs           About GeneDecksing



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

    10/361 SNPs in RHO are shown (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
    ----------
    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--------
    VAR_0047824
    Retinitis pigmentosa 4 (RP4)4--see VAR_0047822 G D mis40--------
    VAR_0047964
    Retinitis pigmentosa 4 (RP4)4--see VAR_0047962 R L mis40--------
    VAR_0048354
    Retinitis pigmentosa 4 (RP4)4--see VAR_0048352 P Q mis40--------
    VAR_0047844
    Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)4--see VAR_0047842 T I mis40--------
    VAR_0683604
    Retinitis pigmentosa 4 (RP4)4--see VAR_0683602 I N mis40--------
    VAR_0048034
    Retinitis pigmentosa 4 (RP4)4--see VAR_0048032 P L mis40--------
    VAR_0047744
    Retinitis pigmentosa 4 (RP4)4--see VAR_0047742 L R 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/75 diseases for RHO (see all 75):    About MalaCards
    xerophthalmia    hereditary retinal dystrophy    keratomalacia    refractive error
    rho-related retinitis pigmentosa    night blindness, congenital stationery, autosomal dominant 1    retinitis pigmentosa 4    retinitis pigmentosa 4, autosomal dominant or recessive
    congenital stationary night blindness, autosomal dominant 1    blindness    hereditary nephrotic syndromes    night blindness, congenital stationary, x-linked, type 2a
    cancer-associated retinopathy    low tension glaucoma    retinitis pigmentosa 7    night blindness
    retinal vascular occlusion    pineocytoma    retinitis pigmentosa    stargardt disease

    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

    RHO for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/52 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)
    About This Section

    PubMed articles for RHO gene, integrated from 9 sources (see all 1144):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (1993)

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

    (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 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/sites/GeneTests/lab/gene/RHO
    Wikipedia http://en.wikipedia.org/wiki/Rhodopsin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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