GenTIGS

Retinal G protein coupled receptor (RGR) Associated conditions: 1. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001012720.2	NP_001012738.1	NC_000010.11	(84245052..84259959)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001012722.2	NP_001012740.1	NC_000010.11	(84245052..84259959)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_002921.4	NP_002912.2	NC_000010.11	(84245052..84259959)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 138 reference articles

Variant Information Retinal G protein coupled receptor (RGR) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Retinal G protein coupled receptor (RGR)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	retinoid metabolic process	Process	-
2	Homo sapiens	IMP	involved_in	retinoid metabolic process	Process	18474598
3	Homo sapiens	ISS	involved_in	retinoid metabolic process	Process	-
4	Homo sapiens	IEA	enables	G protein-coupled receptor activity	Function	-
5	Homo sapiens	TAS	enables	G protein-coupled receptor activity	Function	8641686
6	Homo sapiens	IPI	enables	protein binding	Function	16189514 32814053
7	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
8	Homo sapiens	IEA	located_in	plasma membrane	Component	-
9	Homo sapiens	TAS	located_in	plasma membrane	Component	8641686
10	Homo sapiens	IEA	involved_in	signal transduction	Process	-
11	Homo sapiens	IBA	involved_in	G protein-coupled receptor signaling pathway	Process	-
12	Homo sapiens	IEA	involved_in	G protein-coupled receptor signaling pathway	Process	-
13	Homo sapiens	TAS	involved_in	G protein-coupled receptor signaling pathway	Process	8641686
14	Homo sapiens	IEA	involved_in	visual perception	Process	-
15	Homo sapiens	TAS	involved_in	visual perception	Process	8641686
16	Homo sapiens	IBA	involved_in	phototransduction	Process	-
17	Homo sapiens	IEA	involved_in	phototransduction	Process	-
18	Homo sapiens	IBA	enables	G protein-coupled photoreceptor activity	Function	-
19	Homo sapiens	IEA	involved_in	detection of visible light	Process	-
20	Homo sapiens	IEA	enables	photoreceptor activity	Function	-
21	Homo sapiens	IEA	located_in	membrane	Component	-
22	Homo sapiens	ISS	enables	retinal binding	Function	-
23	Homo sapiens	IBA	involved_in	cellular response to light stimulus	Process	-