RGR Chromosome 10
Retinal G protein coupled receptor
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What This Gene Does
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]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
10q23.1
Ensembl
ENSG00000148604
Associated Conditions (5)
Retinitis pigmentosa 44
Cone dystrophy
Retinal dystrophy
Retinitis pigmentosa
RGR-related disorder
Key Variants
RS104894187
Conflicting classifications of pathogenicity
Retinitis pigmentosa 44, Cone dystrophy, Retinal dystrophy
Health Risk
RS138630905
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS143720091
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 44, RGR-related disorder
Health Risk
RS143761967
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS540094720
Conflicting classifications of pathogenicity
Health Risk
RS575867273
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS748553756
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS749839913
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS753086873
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS760426665
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS761554381
Conflicting classifications of pathogenicity
Retinitis pigmentosa 44, Retinitis pigmentosa 44
Health Risk
RS1589337745
Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894187 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 44, Cone dystrophy, Retinal dystrophy |
| RS138630905 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS143720091 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 44, RGR-related disorder |
| RS143761967 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS540094720 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS575867273 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS748553756 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS749839913 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS753086873 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS760426665 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS761554381 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 44, Retinitis pigmentosa 44 |
| RS1589337745 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1554824273 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |