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Aliases for RGR Gene

Aliases for RGR Gene

  • Retinal G Protein Coupled Receptor 2 3 5
  • RGR-Opsin 2 3
  • RPE-Retinal G Protein-Coupled Receptor 3
  • RP44 3

External Ids for RGR Gene

Previous GeneCards Identifiers for RGR Gene

  • GC10P084961
  • GC10P085226
  • GC10P086136
  • GC10P085669
  • GC10P085994
  • GC10P079850

Summaries for RGR Gene

Entrez Gene Summary for RGR Gene

  • This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for RGR Gene

RGR (Retinal G Protein Coupled Receptor) is a Protein Coding gene. Diseases associated with RGR include Retinitis Pigmentosa 44 and Fundus Dystrophy. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity.

UniProtKB/Swiss-Prot for RGR Gene

  • Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.

Gene Wiki entry for RGR Gene

Additional gene information for RGR Gene

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

Genomics for RGR Gene

GeneHancer (GH) Regulatory Elements for RGR Gene

Promoters and enhancers for RGR Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J084244 Promoter/Enhancer 1.1 EPDnew ENCODE 665.7 +7.8 7795 1.3 SOX13 HLF ARID4B CEBPB CEBPG ZNF644 TEAD3 NFIL3 XRCC5 CEBPA RGR LRIT1 LRIT2 GC10M084241
GH10J084230 Enhancer 0.3 FANTOM5 64.3 -6.5 -6548 0.3 MITF PIR46157 PIR34083 RGR LRIT2 LRIT1 CDHR1
GH10J084269 Enhancer 0.5 ENCODE 16.6 +32.9 32897 0.3 ATF4 JUND CEBPG FOS RGR LRIT1 LRIT2 LINC00858 GC10P084248 GC10P084249 GC10M084258
GH10J084493 Enhancer 0.8 Ensembl ENCODE 4.5 +257.5 257464 2.5 SMARCE1 JUN MAFG DPF2 FOSL1 CTBP1 JUND MAFF ZNF316 FOSL2 RGR CACYBPP1 RPS3AP5 CCSER2
GH10J084295 Enhancer 0.7 Ensembl ENCODE 4.9 +59.6 59640 2 NANOG POLR2A ZNF366 JUN FOS ETS1 GC10M084258 CCSER2 LRIT2 CDHR1 RGR LINC00858
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RGR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RGR gene promoter:
  • GR-beta
  • GR
  • GR-alpha

Genomic Locations for RGR Gene

Genomic Locations for RGR Gene
22,878 bases
Plus strand
14,908 bases
Plus strand

Genomic View for RGR Gene

Genes around RGR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RGR Gene

Proteins for RGR Gene

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

    Protein Symbol:
    Recommended name:
    RPE-retinal G protein-coupled receptor
    Protein Accession:
    Secondary Accessions:
    • A6NKK7
    • Q96FC5

    Protein attributes for RGR Gene

    291 amino acids
    Molecular mass:
    31874 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RGR Gene


neXtProt entry for RGR Gene

Post-translational modifications for RGR Gene

Other Protein References for RGR Gene

No data available for DME Specific Peptides for RGR Gene

Domains & Families for RGR Gene

Gene Families for RGR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RGR 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 RGR: view

Function for RGR Gene

Molecular function for RGR Gene

UniProtKB/Swiss-Prot Function:
Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.
GENATLAS Biochemistry:
retinal opsin related,(rhodopsin homolog)expressed in the retinal pigment epithelium,encoding a retinaldehyde,preferentially all-trans retinal,binding protein,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for RGR Gene

Gene Ontology (GO) - Molecular Function for RGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity TAS 8641686
GO:0005515 protein binding IPI 16189514
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity IEA --
genes like me logo Genes that share ontologies with RGR: view
genes like me logo Genes that share phenotypes with RGR: view

Human Phenotype Ontology for RGR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RGR Gene

MGI Knock Outs for RGR:
  • Rgr Rgr<tm1Hkf>

Animal Model Products

Clone Products

  • Addgene plasmids for RGR

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

Localization for RGR Gene

Subcellular locations from UniProtKB/Swiss-Prot for RGR Gene

Membrane; Multi-pass membrane protein.

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 RGR gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for RGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005887 integral component of plasma membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RGR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RGR Gene

Pathways & Interactions for RGR Gene

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

Gene Ontology (GO) - Biological Process for RGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IEA --
GO:0007601 visual perception TAS,IEA --
GO:0007602 phototransduction IEA --
GO:0009584 detection of visible light IEA --
genes like me logo Genes that share ontologies with RGR: view

No data available for SIGNOR curated interactions for RGR Gene

Drugs & Compounds for RGR Gene

(1) Drugs for RGR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for RGR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • 13Z-Retinal
genes like me logo Genes that share compounds with RGR: view

Transcripts for RGR Gene

Unigene Clusters for RGR Gene

Retinal G protein coupled receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for RGR

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - -
SP7: -

Relevant External Links for RGR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RGR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.6), Brain - Caudate (basal ganglia) (x6.4), Brain - Cortex (x6.0), Brain - Frontal Cortex (BA9) (x5.7), Brain - Amygdala (x5.3), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for RGR Gene

This gene is overexpressed in Retina (69.0).

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

Protein tissue co-expression partners for RGR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RGR Gene:


SOURCE GeneReport for Unigene cluster for RGR Gene:


mRNA Expression by UniProt/SwissProt for RGR Gene:

Tissue specificity: Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.

Evidence on tissue expression from TISSUES for RGR Gene

  • Eye(4.6)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RGR 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
genes like me logo Genes that share expression patterns with RGR: view

Orthologs for RGR Gene

This gene was present in the common ancestor of chordates.

Orthologs for RGR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RGR 34 33
  • 98.74 (n)
(Bos Taurus)
Mammalia RGR 34 33
  • 85.57 (n)
(Canis familiaris)
Mammalia RGR 34 33
  • 83.39 (n)
(Mus musculus)
Mammalia Rgr 16 34 33
  • 81.9 (n)
(Rattus norvegicus)
Mammalia Rgr 33
  • 81.44 (n)
(Ornithorhynchus anatinus)
Mammalia RGR 34
  • 59 (a)
(Gallus gallus)
Aves RGR 34 33
  • 67.25 (n)
(Anolis carolinensis)
Reptilia RGR 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rgr 33
  • 61.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17609 33
(Danio rerio)
Actinopterygii rgra 34 33
  • 62.12 (n)
Species where no ortholog for RGR 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RGR Gene

Gene Tree for RGR (if available)
Gene Tree for RGR (if available)
Evolutionary constrained regions (ECRs) for RGR: view image

Paralogs for RGR Gene

(1) SIMAP similar genes for RGR Gene using alignment to 2 proteins:

  • Q96HT6_HUMAN
genes like me logo Genes that share paralogs with RGR: view

No data available for Paralogs for RGR Gene

Variants for RGR Gene

Sequence variations from dbSNP and Humsavar for RGR Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1026176710 uncertain-significance, Retinitis Pigmentosa, Recessive 84,258,859(+) C/G 3_prime_UTR_variant
rs1042454 benign, not specified, Retinitis Pigmentosa, Recessive 84,252,957(+) C/G/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894187 pathogenic, uncertain-significance, Retinitis pigmentosa 44, not specified 84,247,707(+) A/C coding_sequence_variant, missense_variant
rs11200938 likely-benign, benign, Retinitis Pigmentosa, Recessive, not specified 84,245,109(+) C/T coding_sequence_variant, synonymous_variant
rs11817115 likely-benign, Retinitis Pigmentosa, Recessive 84,259,055(+) A/G 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv3624030 CNV loss 21293372
nsv1046749 CNV gain 25217958
nsv1141879 OTHER inversion 24896259
nsv527522 CNV loss 19592680
nsv551745 CNV gain 21841781

Variation tolerance for RGR Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RGR Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for RGR Gene

MalaCards: The human disease database

(4) MalaCards diseases for RGR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 44
  • rp44
fundus dystrophy
  • retinal dystrophy
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 29
  • rp29
- elite association - COSMIC cancer census association via MalaCards
Search RGR in MalaCards View complete list of genes associated with diseases


  • Retinitis pigmentosa 44 (RP44) [MIM:613769]: 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:10581022}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RGR

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RGR: view

No data available for Genatlas for RGR Gene

Publications for RGR Gene

  1. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. (PMID: 10581022) Morimura H … Dryja TP (Nature genetics 1999) 3 4 22 58
  2. Localization of the human RGR opsin gene to chromosome 10q23. (PMID: 8641686) Chen XN … Fong HK (Human genetics 1996) 2 3 22 58
  3. A human opsin-related gene that encodes a retinaldehyde-binding protein. (PMID: 7947717) Shen D … Fong HK (Biochemistry 1994) 3 4 22 58
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  5. Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. (PMID: 21067480) Ksantini M … Hamel CP (Ophthalmic genetics 2010) 3 44 58

Products for RGR Gene

Sources for RGR Gene

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