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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Pathogenic	rs1554824273	RCV000505119	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs1589337745	RCV000988402	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 44	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Recessive	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RGR-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RGR (retinal G protein coupled receptor)