Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5995
Gene name	Retinal G protein coupled receptor
Gene symbol	RGR
Synonyms (NCBI Gene)	RP44
Chromosome	10
Chromosome location	10q23.1
Summary	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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894187	A>C	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs1554824273	->G	Pathogenic	3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs1589337745	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT540292	hsa-miR-424-3p	HITS-CLIP	23706177
MIRT540291	hsa-miR-3133	HITS-CLIP	23706177
MIRT540290	hsa-miR-186-5p	HITS-CLIP	23706177
MIRT540289	hsa-miR-5683	HITS-CLIP	23706177
MIRT540287	hsa-miR-7151-5p	HITS-CLIP	23706177
MIRT540288	hsa-miR-4709-5p	HITS-CLIP	23706177
MIRT540286	hsa-miR-1245b-3p	HITS-CLIP	23706177
MIRT540285	hsa-miR-6884-3p	HITS-CLIP	23706177
MIRT540284	hsa-miR-509-3p	HITS-CLIP	23706177
MIRT540283	hsa-miR-421	HITS-CLIP	23706177
MIRT540282	hsa-miR-1261	HITS-CLIP	23706177
MIRT540292	hsa-miR-424-3p	PAR-CLIP	21572407
MIRT540291	hsa-miR-3133	PAR-CLIP	21572407
MIRT540290	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT540289	hsa-miR-5683	PAR-CLIP	21572407
MIRT540287	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT540288	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT540286	hsa-miR-1245b-3p	PAR-CLIP	21572407
MIRT540285	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT540284	hsa-miR-509-3p	PAR-CLIP	21572407
MIRT540283	hsa-miR-421	PAR-CLIP	21572407
MIRT540282	hsa-miR-1261	PAR-CLIP	21572407
MIRT540292	hsa-miR-424-3p	HITS-CLIP	23706177
MIRT540291	hsa-miR-3133	HITS-CLIP	23706177
MIRT540290	hsa-miR-186-5p	HITS-CLIP	23706177
MIRT540289	hsa-miR-5683	HITS-CLIP	23706177
MIRT540287	hsa-miR-7151-5p	HITS-CLIP	23706177
MIRT540288	hsa-miR-4709-5p	HITS-CLIP	23706177
MIRT540286	hsa-miR-1245b-3p	HITS-CLIP	23706177
MIRT540285	hsa-miR-6884-3p	HITS-CLIP	23706177
MIRT540284	hsa-miR-509-3p	HITS-CLIP	23706177
MIRT540283	hsa-miR-421	HITS-CLIP	23706177
MIRT540282	hsa-miR-1261	HITS-CLIP	23706177
MIRT540292	hsa-miR-424-3p	PAR-CLIP	21572407
MIRT540291	hsa-miR-3133	PAR-CLIP	21572407
MIRT540290	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT540289	hsa-miR-5683	PAR-CLIP	21572407
MIRT540287	hsa-miR-7151-5p	PAR-CLIP	21572407
MIRT540288	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT540286	hsa-miR-1245b-3p	PAR-CLIP	21572407
MIRT540285	hsa-miR-6884-3p	PAR-CLIP	21572407
MIRT540284	hsa-miR-509-3p	PAR-CLIP	21572407
MIRT540283	hsa-miR-421	PAR-CLIP	21572407
MIRT540282	hsa-miR-1261	PAR-CLIP	21572407
MIRT1304064	hsa-miR-3689d	CLIP-seq
MIRT1304065	hsa-miR-4278	CLIP-seq
MIRT1304066	hsa-miR-4528	CLIP-seq
MIRT1304067	hsa-miR-4675	CLIP-seq
MIRT1304068	hsa-miR-4716-3p	CLIP-seq
MIRT1304069	hsa-miR-4738-3p	CLIP-seq
MIRT1304070	hsa-miR-4741	CLIP-seq
MIRT1304071	hsa-miR-510	CLIP-seq
MIRT2090113	hsa-miR-1229	CLIP-seq
MIRT2090114	hsa-miR-2117	CLIP-seq
MIRT2090115	hsa-miR-3614-5p	CLIP-seq
MIRT2090116	hsa-miR-4273	CLIP-seq
MIRT2090117	hsa-miR-4300	CLIP-seq
MIRT2090118	hsa-miR-4633-3p	CLIP-seq
MIRT2090119	hsa-miR-610	CLIP-seq
MIRT2090120	hsa-miR-920	CLIP-seq
MIRT1304064	hsa-miR-3689d	CLIP-seq
MIRT1304066	hsa-miR-4528	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	8641686
GO:0005515	Function	Protein binding	IPI	16189514, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8641686
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8641686
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	8641686
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0071482	Process	Cellular response to light stimulus	IBA

MIM	HGNC	e!Ensembl
600342	9990	ENSG00000148604

P47804

Protein name

RPE-retinal G protein-coupled receptor

Protein function

Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	33 → 215	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.

Sequence

MAETSALPTGFGELEVLAVGMVLLVEALSGLSLNTLTIFSFCKTPELRTPCHLLVLSLAL
ADSGISLNALVAATSSLLRRWPYGSDGCQAHGFQGFVTALASICSSAAIAWGRYHHYCTR
SQLAWNSAVSLVLFVWLSSAFWAALPLLGWGHYDYEPLGTCCTLDYSKGDRNFTSFLFTM
SFFNFAMPLFITITSYSLMEQKLGKSGHLQVNTTLPARTLLLGWGPYAILYLYAVIADVT
SISPKLQMVPALIAKMVPTINAINYALGNEMVCRGIWQCLSPQKREKDRTK

Sequence length

291

Interactions

View interactions

	Reactome
			G alpha (i) signalling events Opsins

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Pathogenic	rs1554824273	RCV000505119
Retinitis pigmentosa	Likely pathogenic	rs1589337745	RCV000988402

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11817115	RCV005891899
Cone dystrophy	Conflicting classifications of pathogenicity	rs104894187	RCV000626831
Optic atrophy	Uncertain significance	rs773435796	RCV004816923
Retinitis pigmentosa 44	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs751874712, rs780231448, rs139595177, rs143720091, rs1042454, rs104894187, rs2279227, rs146536539, rs761554381, rs1842917477, rs1842908009, rs777299739	RCV001333639 RCV004577009 RCV005397210 RCV001001658 RCV001795295 RCV000009759 RCV001795485 RCV002487344 RCV001352959 RCV000009760 RCV001196870 RCV004789474
Retinitis Pigmentosa, Recessive	Likely benign	rs34014972	RCV000378970
RGR-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs552547432, rs748553756, rs143720091, rs1175375539, rs149516779, rs1202633830	RCV003918884 RCV003938722 RCV003917508 RCV003903749 RCV004757201 RCV003901725

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	38299232
Carcinoma Squamous Cell	Associate	38299232
Color Vision Defects	Associate	20454696
Cone Rod Dystrophies	Associate	30347075
Hypertensive Retinopathy	Associate	30347075
Neoplasms	Stimulate	38299232
Peripapillary Atrophy Beta Type	Associate	27011730
Retinal Drusen	Associate	19450444
Retinal Dystrophies	Associate	20454696
Retinitis Pigmentosa	Associate	27011730
Vision Disorders	Associate	30347075

RGR (retinal G protein coupled receptor)