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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RGR
retinal G protein coupled receptor
Chromosome 10 · 10q23.1
NCBI Gene: 5995Ensembl: ENSG00000148604.15HGNC: HGNC:9990UniProt: A0A0S2Z494
38PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingretinoid metabolic processG protein-coupled photoreceptor activityretinal bindingretinitis pigmentosamyopiaRetinal dystrophyProgressive visual loss
✦AI Summary

RGR (retinal G protein-coupled receptor) is a membrane-bound photoisomerase expressed in retinal pigment epithelium (RPE) and Müller glia that plays a critical role in visual chr10 regeneration 1. Despite its G protein-coupled receptor classification, RGR has no known coupled G protein but functions as an alternative visual cycle photoisomerase, converting all-trans-retinal (atRAL) to 11-cis-retinal (11cRAL) under photopic conditions when the classical visual cycle is insufficient 1. This photoisomerization is essential for sustaining phototransduction in bright light conditions. Mutations in human RGR are associated with inherited retinal degeneration and age-related macular degeneration (AMD) 1. An exon-skipping splice variant, RGR-d, is a persistent component of drusen in AMD pathology 2. Studies demonstrate that abnormal RGR proteins, including RGR-d, are pathogenic, causing retinal degeneration with choriocapillaris and RPE atrophy, focal basal deposit accumulation, and fundus lesions with patchy depigmentation 2. RGR-d mislocalization in cultured cells produces significant cell growth defects 2. These findings suggest a potential link between AMD and high-frequency RGR alleles, positioning RGR mutations as clinically significant contributors to vision-threatening ocular diseases.

Sources cited
1
RGR functions as a photoisomerase converting atRAL to 11cRAL, is expressed in RPE and Müller glia, and mutations associate with inherited retinal degeneration and AMD
PMID: 39961453
2
RGR-d splice variant is a component of drusen, abnormal RGR proteins are pathogenic causing retinal degeneration with choriocapillaris atrophy, RPE atrophy, and cell growth defects
PMID: 34022179
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
retinitis pigmentosaOpen Targets
0.63Moderate
myopiaOpen Targets
0.45Moderate
Retinal dystrophyOpen Targets
0.44Moderate
Progressive visual lossOpen Targets
0.32Weak
refractive errorOpen Targets
0.15Weak
Abnormality of refractionOpen Targets
0.15Weak
cone dystrophyOpen Targets
0.12Weak
optic atrophyOpen Targets
0.11Weak
squamous cell carcinomaOpen Targets
0.07Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
COVID-19Open Targets
0.03Suggestive
skin diseaseOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
corneal ulcerOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
response to selective serotonin reuptake inhibitorOpen Targets
0.02Suggestive
human granulocytic anaplasmosisOpen Targets
0.01Suggestive
cutaneous squamous cell carcinomaOpen Targets
0.01Suggestive
Retinitis pigmentosa 44UniProt
Pathogenic Variants2
NM_001012720.2(RGR):c.820del (p.Arg274fs)Likely pathogenic
Retinitis pigmentosa
★☆☆☆2019→ Residue 274
NM_001012720.2(RGR):c.*74dupPathogenic
Retinal dystrophy
☆☆☆☆2015
View on ClinVar ↗
Related Genes
RDH5Protein interaction97%RDH10Protein interaction97%RLBP1Protein interaction89%RRHShared pathway80%GNAT1Protein interaction73%OPN1MWShared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
34%
Lung
8%
Bone Marrow
5%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
RGRRDH5RDH10RLBP1RRHGNAT1OPN1MW
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P47804
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.80–1.41]
RankingsWhere RGR stands among ~20K protein-coding genes
  • #10,535of 20,598
    Most Researched38
  • #4,473of 5,498
    Most Pathogenic Variants2
  • #14,600of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedRGR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RNA N-glycosylation enables immune evasion and homeostatic efferocytosis.
PMID: 40770106
Nature · 2025
1.00
2
PMID: 20301590
0.90
3
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
PMID: 31514194
Horm Res Paediatr · 2019
0.80
4
Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
PMID: 34022179
Am J Pathol · 2021
0.70
5
Redirecting immune signaling with cytokine adaptors.
PMID: 40069219
Nat Commun · 2025
0.60