RGR Chromosome 10

Retinal G protein coupled receptor
13 variants 13 Health Risk

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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
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
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