RGR (retinal G protein coupled receptor)

2003-02-01  

Identity

HGNC
LOCATION
10q23.1
LOCUSID
ALIAS
RP44

Other Information

Locus ID:

NCBI: 5995
MIM: 600342
HGNC: 9990
Ensembl: ENSG00000148604

Variants:

dbSNP: 5995
ClinVar: 5995
TCGA: ENSG00000148604
COSMIC: RGR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148604ENST00000358110P47804
ENSG00000148604ENST00000358110A0A0S2Z494
ENSG00000148604ENST00000359452P47804
ENSG00000148604ENST00000359452A0A0S2Z498
ENSG00000148604ENST00000478727A0A494C1A1
ENSG00000148604ENST00000483660A0A494C1G9
ENSG00000148604ENST00000483744A0A494C1E7
ENSG00000148604ENST00000497161A0A494C0U5
ENSG00000148604ENST00000650682A0A494BZT6
ENSG00000148604ENST00000650774A0A494C170
ENSG00000148604ENST00000651155A0A494C1U1
ENSG00000148604ENST00000651237A0A494C063
ENSG00000148604ENST00000652073A0A494C063
ENSG00000148604ENST00000652092P47804
ENSG00000148604ENST00000652122A0A494C187
ENSG00000148604ENST00000652310A0A494C1A1

Expression (GTEx)

0
1
2
3
4
5
6

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
OpsinsREACTOMER-HSA-419771
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
184745982008Retinal pigment epithelium-retinal G protein receptor-opsin mediates light-dependent translocation of all-trans-retinyl esters for synthesis of visual chromophore in retinal pigment epithelial cells.39
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
167379702006Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.13
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
194504442009Accumulation of extracellular RGR-d in Bruch's membrane and close association with drusen at intercapillary regions.7
176799412007Deposition of exon-skipping splice isoform of human retinal G protein-coupled receptor from retinal pigment epithelium into Bruch's membrane.6
214419532011The human Rgr oncogene is overexpressed in T-cell malignancies and induces transformation by acting as a GEF for Ras and Ral.3
210674802010Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.1
210674802010Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.1

Citation

Dessen P

RGR (retinal G protein coupled receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42098/rgr