RGR

Chr 10q23.1

retinal G protein coupled receptor

Aliases:: RP44
MANE:: ENST00000652092.2

OMIM: 600342 ↗NCBI: 5995 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RGR · P47804

v62025-08-01

Predicted Aligned Error matrix for RGR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

291 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)11%
Low(50–70)7%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.63
myopia
0.45
Retinal dystrophy
0.44
primary angle-closure glaucoma
0.32
Progressive visual loss
0.31
refractive error
0.13
Abnormality of refraction
0.12
cone dystrophy
0.12
optic atrophy
0.11
open-angle glaucoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RPE-retinal G protein-coupled receptor

Non-visual opsin that functions as a light-dependent facilitator of retinoid isomerization and trafficking in retinal pigment epithelium (RPE) and Mueller glia (PubMed:18474598). Participates in a photic visual cycle by complementing the classical enzymatic RPE65/RDH pathway for chromophore regeneration (By similarity). Binds all-trans-retinal via a conserved Schiff-base lysine and, upon illumination, promotes photoisomerization of all-trans-retinal to 11-cis-retinal required for regeneration of visual pigments (By similarity). Also mediates light-dependent mobilization of stored all-trans-retinyl esters from lipid droplets to endoplasmic reticulum membranes, facilitating their processing into 11-cis-retinoids (PubMed:18474598). May also modulate isomerohydrolase activity independent of light (By similarity). Although RGR is structurally a GPCR-family opsin, there is no consistent evidence that RGR activates G proteins or initiates a canonical second-messenger signaling cascade (Probable)

Curated MONDO disease pages that list RGR among their top associated genes.

myopiaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with RGR