RGR (Retinal G Protein Coupled Receptor)
A key gene in retinal function and visual cycle regulation
Gene Information Card
| Symbol | RGR |
|---|---|
| Full Name | Retinal G Protein Coupled Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 5995 ncbi.nlm.nih.gov/gene/5995 |
| Ensembl ID | ENSG00000148737 |
| UniProt ID | P47804 |
| OMIM ID | 600342 |
| HGNC ID | 9988 |
| Aliases | RP44, GPRR, RGR-opsin |
Description
The RGR gene encodes a retinal G protein coupled receptor (RGR-opsin) that is expressed in the retinal pigment epithelium (RPE) and Müller cells. It binds all-trans-retinal and is involved in the visual cycle, specifically in the regeneration of 11-cis-retinal. Mutations in RGR are associated with autosomal recessive retinitis pigmentosa (RP44) and choroidal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 44 (RP44) | Loss-of-function mutations impair retinal isomerase activity, disrupting the visual cycle and leading to photoreceptor degeneration. | ClinVar, OMIM |
| Choroidal dystrophy (central areolar choroidal dystrophy) | Mutations in RGR cause progressive atrophy of the choroid and retinal pigment epithelium via similar visual cycle disruption. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Retinal pigment epithelium | 8.3 | Medium |
| Brain (cerebellum) | 0.2 | Low |
| Heart | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE cell line) | 10.1 | High expression |
| HEK293 | 0.3 | Low expression |
| SH-SY5Y | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.565C>T (p.Arg189*) | Nonsense | Rare | Premature stop, loss of function |
| c.814G>A (p.Gly272Arg) | Missense | Rare | Impaired retinal binding, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most RGR mutations are loss-of-function, leading to reduced or absent protein activity, disrupting the visual cycle and causing retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RGR.
Dominant Negative (DN)
No dominant-negative mutations have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • retinal binding (GO:0019842) |
| • phototransduction (GO:0007602) | • visual perception (GO:0007601) |
| • response to light stimulus (GO:0009416) |
Pathways
• Visual cycle (Reactome: R-HSA-2453902)
• Retinoid metabolism and transport (Reactome: R-HSA-975634)
Protein Summary
RGR-opsin is a 291-amino acid transmembrane protein belonging to the G protein-coupled receptor family. It is localized to the microsomal membranes of RPE and Müller cells, where it binds all-trans-retinal and facilitates its isomerization to 11-cis-retinal. This function is essential for the regeneration of visual pigments and maintenance of photoreceptor health.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGR Knockout HEK293 Cell Line | EDJ-KQ5671 | Human | 5995 | Details Get a Quote |
| RGR Knockout HeLa Cell Line | EDJ-KQ54316 | Human | 5995 | Details Get a Quote |
| RGR Knockout A-549 Cell Line | EDJ-KQ62810 | Human | 5995 | Details Get a Quote |
| RGR Knockout HCT 116 Cell Line | EDJ-KQ71275 | Human | 5995 | Details Get a Quote |
