Property Summary

NCBI Gene PubMed Count 25
Grant Count 19
R01 Count 19
Funding $4,902,417.16
PubMed Score 31.45
PubTator Score 54.88

Knowledge Summary

Patent (6,884)

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma 1.680 0.000
ependymoma -1.500 0.000
glioblastoma -1.500 0.005
medulloblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -1.700 0.000
medulloblastoma, large-cell -1.500 0.006
primitive neuroectodermal tumor -1.700 0.003
adult high grade glioma -1.500 0.003
pilocytic astrocytoma -1.500 0.000
Pick disease 1.200 0.025
psoriasis -1.600 0.000

Gene RIF (10)

PMID Text
21441953 conclude that the ability of hRgr to activate both Ral and Ras is responsible for its transformation-inducing phenotype and it could be an important contributor in the development of some T-cell malignancies
21067480 It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies.
21067480 Observational study of gene-disease association. (HuGE Navigator)
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
19450444 the exon-skipping variant of RGR (RGR-d) is found in extracellular deposits;at the base of early-stage drusen mounds in the older donors and may precede the formation of these drusen
18474598 RGR-opsin mediates light-dependent translocation of all-trans-retinyl esters from a storage pool in lipid droplets to an "isomerase pool" in membranes of the endoplasmic reticulum.
17679941 These results indicate that after exon-skipping RGR splice isoform (RGR-d) is synthesized, the RGR-d epitope is released at the basal surface of the retinal pigment epithelium and deposited into Bruch's membrane in human eyes throughout adult life.
16737970 E150K opsin is partially colocalized with the cis/medial Golgi compartment but not with the trans-Golgi network; results are consistent with recessive pattern of inheritance; retinal degeneration results from deficient export of opsin from the Golgi
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAETSALPTGFGELEVLAVGMVLLVEALSGLSLNTLTIFSFCKTPELRTPCHLLVLSLALADSGISLNAL      1 - 70
VAATSSLLRRWPYGSDGCQAHGFQGFVTALASICSSAAIAWGRYHHYCTRSQLAWNSAVSLVLFVWLSSA     71 - 140
FWAALPLLGWGHYDYEPLGTCCTLDYSKGDRNFTSFLFTMSFFNFAMPLFITITSYSLMEQKLGKSGHLQ    141 - 210
VNTTLPARTLLLGWGPYAILYLYAVIADVTSISPKLQMVPALIAKMVPTINAINYALGNEMVCRGIWQCL    211 - 280
SPQKREKDRTK                                                               281 - 291
//

Text Mined References (25)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
21441953 2011 The human Rgr oncogene is overexpressed in T-cell malignancies and induces transformation by acting as a GEF for Ras and Ral.
21067480 2010 Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
19450444 2009 Accumulation of extracellular RGR-d in Bruch's membrane and close association with drusen at intercapillary regions.
18474598 2008 Retinal 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.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
17679941 2007 Deposition of exon-skipping splice isoform of human retinal G protein-coupled receptor from retinal pigment epithelium into Bruch's membrane.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
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