Property Summary

NCBI Gene PubMed Count 25
PubMed Score 31.45
PubTator Score 54.88

Knowledge Summary

Patent (6,884)

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma 1.680 3.4e-07
ependymoma -1.500 8.5e-11
glioblastoma -1.500 4.7e-03
medulloblastoma -1.800 1.1e-05
atypical teratoid / rhabdoid tumor -1.700 1.1e-04
medulloblastoma, large-cell -1.500 5.9e-03
primitive neuroectodermal tumor -1.700 2.9e-03
adult high grade glioma -1.500 2.9e-03
pilocytic astrocytoma -1.500 3.5e-05
Pick disease 1.200 2.5e-02
psoriasis -1.600 1.2e-07

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.
16737970 2006 Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
12573668 2003 Expression of opsin genes early in ocular development of humans and mice.
12542842 2003 In silico characterisation and chromosomal localisation of human RRH (peropsin)--implications for opsin evolution.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11723126 2002 Synthesis of the all-trans-retinal chromophore of retinal G protein-coupled receptor opsin in cultured pigment epithelial cells.
11274198 2001 Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin.
10581022 1999 Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
8641686 1996 Localization of the human RGR opsin gene to chromosome 10q23.
7947717 1994 A human opsin-related gene that encodes a retinaldehyde-binding protein.
7789419 1995 Alternative splicing in human retinal mRNA transcripts of an opsin-related protein.