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Aliases for RHO Gene

Aliases for RHO Gene

  • Rhodopsin 2 3 3 5
  • Opsin 2, Rod Pigment 2 3
  • Opsin-2 3 4
  • OPN2 3 4
  • Retinitis Pigmentosa 4, Autosomal Dominant 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
  • GC03P129529

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 the visual cycle I (vertebrates) and Phototransduction. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHO Gene

Genomics for RHO Gene

Regulatory Elements for RHO Gene

Enhancers for RHO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G129525 1.5 FANTOM5 Ensembl ENCODE 18.7 -2.4 -2439 2.0 HDGF ARNT ARID4B SIN3A YY1 ZNF143 ZNF207 FOS DEK REST RPL32P3 IFT122 RHO PLXND1 MBD4 GC03M129503
GH03G129621 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +96.5 96548 7.6 HDGF FOXA2 MLX AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 RPL32P3 RNY3P13 H1FX-AS1 RHO PLXND1 TMCC1-AS1 GC03P129621 ENSG00000248659
GH03G129556 1.6 Ensembl ENCODE dbSUPER 11.7 +31.0 31013 6.6 HDGF PKNOX1 AGO1 ARID4B SIN3A ZNF2 YY1 FOS PAF1 SP3 PLXND1 RHO IFT122 RPL32P3 GC03M129561 H1FOO
GH03G129591 1.8 FANTOM5 ENCODE dbSUPER 10.4 +72.3 72335 19.4 MLX CREB3L1 AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 RPL32P3 H1FX-AS1 IFT122 ISY1 LINC02021 ENSG00000244932 H1FX RHO PLXND1 ENSG00000203644
GH03G129447 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -79.4 -79416 4.0 HDAC1 TBP PKNOX1 ATF1 CREB3L1 NFRKB ZBTB40 YY1 TCF12 ZNF766 RPL32P3 ISY1 H1FX RHO PLXND1 ENSG00000244932 IFT122 ACAD9 MBD4 GC03P129587
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHO on UCSC Golden Path with GeneCards custom track

Genomic Location for RHO Gene

129,528,639 bp from pter
129,535,344 bp from pter
6,706 bases
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 StructureGene Density

RefSeq DNA sequence for RHO Gene

Proteins for RHO Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q16414
    • Q2M249

    Protein attributes for RHO Gene

    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

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 Asn2 and Asn15
  • Modification sites at PhosphoSitePlus

Other Protein References for RHO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RHO (Rhodopsin)

No data available for DME Specific Peptides for RHO Gene

Domains & Families for RHO Gene

Gene Families for RHO Gene

Suggested Antigen Peptide Sequences for RHO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
  • 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

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:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA,TAS --
GO:0005515 protein binding IPI 12754272
GO:0009881 photoreceptor activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RHO: view
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 tm1(EDNRB)Fji
  • Rho tm4.1(RHO*/EGFP)Jhw
  • Rho tm1Jlem
  • Rho tm2Jlem
  • Rho tm2(RHO/GFP)Jhw
  • Rho tm1Phm
  • Rho tm3(RHO/GFP)Jhw
  • Rho tm1Jhw

Animal Model Products

CRISPR Products

miRNA for RHO Gene

miRTarBase miRNAs that target RHO

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RHO

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHO gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 2
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for RHO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001750 photoreceptor outer segment IDA 11767049
GO:0001917 photoreceptor inner segment IDA 11767049
GO:0005794 Golgi apparatus IDA 11767049
GO:0005886 plasma membrane IDA --
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

Pathways by source for RHO Gene

Gene Ontology (GO) - Biological Process for RHO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 2218504
GO:0007601 visual perception 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved, Vet_approved Pharma Activator, Target, other 2
Zoledronic acid Approved Pharma Inhibition, Inhibitor Potent nitrogen-containing bisphosphonates, Osteoclast function modifiers (important in bone metastasis) 294
Hexadecanal Experimental Pharma Target 0
N-Acetylmethionine Experimental Pharma Target 0
(Hydroxyethyloxy)Tri(Ethyloxy)Octane Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
trifluoroacetic acid
  • Acide trifluoroacetique
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid

(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

Drug Products

Transcripts for RHO Gene

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

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RHO

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

No ASD Table

Relevant External Links for RHO Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RHO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for RHO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHO Gene:


SOURCE GeneReport for Unigene cluster for RHO Gene:


mRNA Expression by UniProt/SwissProt for RHO Gene:

Tissue specificity: Rod shaped photoreceptor cells which mediates vision in dim light.

Evidence on tissue expression from TISSUES for RHO Gene

  • Eye(5)
  • Muscle(3.2)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RHO: view

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
(Pan troglodytes)
Mammalia RHO 34 35
  • 99.43 (n)
(Monodelphis domestica)
Mammalia RHO 35
  • 93 (a)
(Canis familiaris)
Mammalia RHO 34 35
  • 92.72 (n)
(Ornithorhynchus anatinus)
Mammalia RHO 35
  • 91 (a)
(Bos Taurus)
Mammalia RHO 34 35
  • 89.66 (n)
(Rattus norvegicus)
Mammalia Rho 34
  • 88.7 (n)
(Mus musculus)
Mammalia Rho 34 16 35
  • 88.31 (n)
(Gallus gallus)
Aves RHO 34 35
  • 83.72 (n)
(Anolis carolinensis)
Reptilia RHO 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rho 34
  • 77.87 (n)
Str.5791 34
African clawed frog
(Xenopus laevis)
Amphibia rho-prov 34
(Danio rerio)
Actinopterygii RHO (4 of 4) 35
  • 85 (a)
rho 34 35
  • 79 (a)
exorh 34
  • 77.3 (n)
rhol 35
  • 72 (a)
opn1sw2 35
  • 45 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11367 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11297 35
  • 34 (a)
-- 35
  • 33 (a)
Species where no ortholog for RHO was found in the sources mined by GeneCards:
  • 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

Gene Tree for RHO (if available)
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
rs104893768 Pathogenic, Retinitis pigmentosa 4 (RP4) [MIM:613731] 129,528,801(+) CAGCC(A/C)CTTCG reference, missense
rs104893769 Pathogenic, Retinitis pigmentosa 4 (RP4) [MIM:613731] 129,528,783(+) TGCGA(C/T)GGGTG reference, missense
rs104893770 Pathogenic, Retinitis pigmentosa 4 (RP4) [MIM:613731] 129,528,866(+) ACATG(C/T)TTCTG reference, missense
rs104893771 Pathogenic, Retinitis pigmentosa 4 (RP4) [MIM:613731] 129,528,993(+) CATGG(A/T)CCTAG reference, missense
rs104893772 Pathogenic, Retinitis pigmentosa 4 (RP4) [MIM:613731] 129,528,999(+) CCTAG(A/G)TGGCT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4858n100 CNV gain 25217958
nsv3998 CNV deletion 18451855
nsv822251 CNV loss 20364138
nsv955346 CNV deletion 24416366

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for RHO Gene

MalaCards: The human disease database

(49) 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
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus albipunctatus
  • retinitis punctata albescens
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


  • 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:19934218, 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)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RHO: view

No data available for Genatlas for RHO Gene

Publications for RHO Gene

  1. [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]. (PMID: 16185528) Wang D.Y. … Pang C.P. (Zhonghua Yi Xue Za Zhi 2005) 3 22 46 64
  2. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. (PMID: 8554077) Souied E. … Kaplan J. (Am. J. Ophthalmol. 1996) 3 4 46 64
  3. Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. (PMID: 7633434) Macke J.P. … Nathans J. (Hum. Mol. Genet. 1995) 3 4 22 64
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  5. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PMID: 20591486) Clark G.R. … Simpson D.A. (Ophthalmology 2010) 3 46 64

Products for RHO Gene

Sources for RHO Gene

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