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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5995
Gene name Gene Name - the full gene name approved by the HGNC.	Retinal G protein coupled receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RGR
Synonyms (NCBI Gene) Gene synonyms aliases	RP44
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs1554824273	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1589337745	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cone Dystrophy	cone dystrophy	N/A	N/A	ClinVar
Hyperopia	Hyperopia	N/A	N/A	GWAS
Myopia	Myopia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)