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RHO Gene(Protein Coding)

Rhodopsin

GCID:
GC03P129529
GIFtS:
71
Genes Participants
UDN Logo

Aliases for RHO Gene

Aliases for RHO Gene

  • Rhodopsin 2 3 5
  • Opsin-2 3 4
  • OPN2 3 4
  • Retinitis Pigmentosa 4, Autosomal Dominant 2
  • Opsin 2, Rod Pigment 3
  • Rod Pigment 2
  • Opsin 2 2
  • CSNBAD1 3
  • RP4 3

External Ids for RHO Gene

Previous HGNC Symbols for RHO Gene

  • RP4

Previous GeneCards Identifiers for RHO Gene

  • GC03P126073
  • GC03P129884
  • GC03P130529
  • GC03P130568
  • GC03P130730
  • GC03P129247
  • GC03P126630

Summaries for RHO Gene

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 Night Blindness, Congenital Stationary, Autosomal Dominant 1 and Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive. Among its related pathways are Peptide ligand-binding receptors and Regulation of Microtubule Cytoskeleton. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1SW.

UniProtKB/Swiss-Prot for RHO Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHO Gene

Genomics for RHO Gene

Products:

  1. Regulatory Element

Regulatory Elements for RHO Gene

Enhancers for RHO Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RHO on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RHO gene promoter:

Genomic Location for RHO Gene

Chromosome:
3
Start:
129,528,639 bp from pter
End:
129,535,344 bp from pter
Size:
6,706 bases
Orientation:
Plus strand

Genomic View for RHO Gene

Genes around RHO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHO Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RHO Gene

Proteins for RHO Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RHO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08100-OPSD_HUMAN
    Recommended name:
    Rhodopsin
    Protein Accession:
    P08100
    Secondary Accessions:
    • Q16414
    • Q2M249

    Protein attributes for RHO Gene

    Size:
    348 amino acids
    Molecular mass:
    38893 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for RHO Gene

neXtProt entry for RHO Gene

Proteomics data for RHO Gene at MOPED

Protein Expression for RHO Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RHO Gene

  • Contains one covalently linked retinal chromophore.
  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
  • Glycosylation at Asn 2 and Asn 15
  • Modification sites at PhosphoSitePlus

Other Protein References for RHO Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RHO Gene

Domains & Families for RHO Gene

Gene Families for RHO Gene

HGNC:

Protein Domains for RHO Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RHO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08100

UniProtKB/Swiss-Prot:

OPSD_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with RHO: view

Function for RHO Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for RHO Gene

GENATLAS Biochemistry:
rhodopsin,G protein coupled receptor superfamily,visual pigment of the rod cells of retina
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=495 nm;
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for RHO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008020 G-protein coupled photoreceptor activity IBA --
genes like me logo Genes that share ontologies with RHO: view

Phenotypes for RHO Gene

MGI mutant phenotypes for RHO:
inferred from 18 alleles
GenomeRNAi human phenotypes for RHO:
genes like me logo Genes that share phenotypes with RHO: view

Human Phenotype Ontology for RHO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RHO Gene

MGI Knock Outs for RHO:
  • Rho tm4.1(RHO*/EGFP)Jhw
  • Rho tm2Jlem
  • Rho tm1Phm
  • Rho tm1Jlem
  • Rho tm2(RHO/GFP)Jhw
  • Rho tm3(RHO/GFP)Jhw
  • Rho tm1Jhw

Animal Model Products

miRNA for RHO Gene

miRTarBase miRNAs that target RHO

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RHO Gene

Localization for RHO Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHO Gene

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
Jensen Localization Image for RHO Gene COMPARTMENTS Subcellular localization image for RHO gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 3
cytoskeleton 2
cytosol 2
extracellular 2
mitochondrion 2
nucleus 2
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RHO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 11767049
GO:0005887 integral component of plasma membrane TAS 8253795
GO:0030660 Golgi-associated vesicle membrane TAS --
GO:0030867 rough endoplasmic reticulum membrane IEA --
GO:0060342 photoreceptor inner segment membrane IDA 19934218
genes like me logo Genes that share ontologies with RHO: view

Pathways & Interactions for RHO Gene

genes like me logo Genes that share pathways with RHO: view

Gene Ontology (GO) - Biological Process for RHO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007602 phototransduction IEA --
GO:0007603 phototransduction, visible light TAS 1418997
GO:0009416 response to light stimulus IEA --
GO:0009583 detection of light stimulus IEA --
genes like me logo Genes that share ontologies with RHO: view

No data available for SIGNOR curated interactions for RHO Gene

Drugs & Compounds for RHO Gene

Products:

  1. Drug

(44) Drugs for RHO Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved Pharma Activator, Target, other 1
Hexadecanal Experimental Pharma Target 0
N-Acetylmethionine Experimental Pharma Target 0
(Hydroxyethyloxy)Tri(Ethyloxy)Octane Experimental Pharma Target 0
3-[Aminoethylphosphoryl]-[1,2-Di-Palmitoyl]-Sn-Glycerol Experimental Pharma Target 0

(55) Additional Compounds for RHO Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
 3458-28-4
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
 76-05-1

(1) ApexBio Compounds for RHO Gene

Compound Action Cas Number
Zoledronic Acid Potent nitrogen-containing bisphosphonates 118072-93-8
genes like me logo Genes that share compounds with RHO: view

Transcripts for RHO Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for RHO Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(364) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RHO Gene

Rhodopsin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHO Gene

No ASD Table

Relevant External Links for RHO Gene

GeneLoc Exon Structure for
RHO
ECgene alternative splicing isoforms for
RHO

Expression for RHO Gene

Products:

  1. Primer

mRNA expression in normal human tissues for RHO Gene

mRNA expression in normal human tissues for RHO Gene
mRNA expression by BioGPS for RHO GenemRNA expression by GTEx for RHO Gene

mRNA differential expression in normal tissues according to GTEx for RHO Gene

This gene is overexpressed in Brain - Cortex (x8.9), Brain - Frontal Cortex (BA9) (x8.4), Brain - Cerebellar Hemisphere (x5.5), and Brain - Cerebellum (x5.2).

Protein differential expression in normal tissues from HIPED for RHO Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHO Gene



SOURCE GeneReport for Unigene cluster for RHO Gene Hs.247565

mRNA Expression by UniProt/SwissProt for RHO Gene

P08100-OPSD_HUMAN
Tissue specificity: Rod shaped photoreceptor cells which mediates vision in dim light.
genes like me logo Genes that share expression patterns with RHO: view

Protein tissue co-expression partners for RHO Gene

- Elite partner

Primer Products

Orthologs for RHO Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia RHO 35
  • 89.66 (n)
  • 93.39 (a)
RHO 36
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia RHO 35
  • 92.72 (n)
  • 95.4 (a)
RHO 36
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Rho 35
  • 88.31 (n)
  • 94.83 (a)
Rho 16
Rho 36
  • 95 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia RHO 35
  • 99.43 (n)
  • 100 (a)
RHO 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rho 35
  • 88.7 (n)
  • 95.11 (a)
oppossum
(Monodelphis domestica)
 Mammalia RHO 36
  • 93 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RHO 36
  • 91 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RHO 35
  • 83.72 (n)
  • 86.49 (a)
RHO 36
  • 87 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RHO 36
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rho 35
  • 77.87 (n)
  • 83.33 (a)
Str.5791 35
African clawed frog
(Xenopus laevis)
 Amphibia rho-prov 35
zebrafish
(Danio rerio)
 Actinopterygii exorh 35
  • 77.3 (n)
  • 81.03 (a)
rho 35
opn1sw2 36
  • 45 (a)
 OneToMany
rho 36
  • 79 (a)
 OneToMany
RHO (4 of 4) 36
  • 85 (a)
 OneToMany
rhol 36
  • 72 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11367 35
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 33 (a)
 ManyToMany
CSA.11297 36
  • 34 (a)
 ManyToMany
Species with no ortholog for RHO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RHO Gene

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

Paralogs for RHO Gene

Paralogs for RHO Gene

(8) SIMAP similar genes for RHO Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RHO: view

Variants for RHO Gene

Sequence variations from dbSNP and Humsavar for RHO Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_004765 Retinitis pigmentosa 4 (RP4)
VAR_004766 Retinitis pigmentosa 4 (RP4)
VAR_004767 Retinitis pigmentosa 4 (RP4)
VAR_004768 Retinitis pigmentosa 4 (RP4)
VAR_004769 Retinitis pigmentosa 4 (RP4)

Structural Variations from Database of Genomic Variants (DGV) for RHO Gene

Variant ID Type Subtype PubMed ID
nsv3998 CNV Loss 18451855
dgv5254n71 CNV Loss 21882294
dgv5255n71 CNV Loss 21882294
nsv822251 CNV Loss 20364138

Variation tolerance for RHO Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHO Gene

Human Gene Mutation Database (HGMD)
RHO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHO Gene

Disorders for RHO Gene

MalaCards: The human disease database

(36) MalaCards diseases for RHO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary, autosomal dominant 1
  • congenital stationary night blindness, autosomal dominant 1
retinitis pigmentosa 4, autosomal dominant or recessive
  • retinitis pigmentosa 4
fundus albipunctatus
  • retinitis punctata albescens
retinitis pigmentosa
  • retinitis pigmentosa 1
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards
Search RHO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPSD_HUMAN
  • 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. {ECO:0000269 PubMed:7846071, ECO:0000269 PubMed:8358437, ECO:0000269 PubMed:9888392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:1302614, ECO:0000269 PubMed:1391967, ECO:0000269 PubMed:1833777, ECO:0000269 PubMed:1840561, ECO:0000269 PubMed:1862076, ECO:0000269 PubMed:1897520, ECO:0000269 PubMed:1985460, ECO:0000269 PubMed:19960070, ECO:0000269 PubMed:2137202, ECO:0000269 PubMed:2215617, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:2239971, ECO:0000269 PubMed:7633434, ECO:0000269 PubMed:7981701, ECO:0000269 PubMed:7987326, ECO:0000269 PubMed:7987331, ECO:0000269 PubMed:8045708, ECO:0000269 PubMed:8076945, ECO:0000269 PubMed:8081400, ECO:0000269 PubMed:8088850, ECO:0000269 PubMed:8317502, ECO:0000269 PubMed:8353500, ECO:0000269 PubMed:8554077, ECO:0000269 PubMed:9452035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RHO

Genetic Association Database (GAD)
RHO
Human Genome Epidemiology (HuGE) Navigator
RHO
Tumor Gene Database (TGDB):
RHO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHO
genes like me logo Genes that share disorders with RHO: view

No data available for Genatlas for RHO Gene

Publications for RHO Gene

  1. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (PMID: 8554077) Souied E. … Kaplan J. (Am. J. Ophthalmol. 1996) 3 4 48 67
  2. 6-s-cis Conformation and polar binding pocket of the retinal chromophore in the photoactivated state of rhodopsin. (PMID: 19795853) Ahuja S. … Smith S.O. (J. Am. Chem. Soc. 2009) 3 23
  3. Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa. (PMID: 19958124) Matias-Florentino M. … Zenteno J.C. (Curr. Eye Res. 2009) 3 23
  4. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. (PMID: 18487375) Zeitz C. … Berger W. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for RHO Gene

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