RGR retinal G protein coupled receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: RGRprovided by HGNC
Official Full Name: retinal G protein coupled receptorprovided by HGNC
Primary source: HGNC:HGNC:9990
See related: Ensembl:ENSG00000148604 MIM:600342; AllianceGenome:HGNC:9990
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP44
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 the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 4.9) and testis (RPKM 0.4) See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (84245053..84259960)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (85123573..85138478)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (86004809..86019716)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression Analysis of Retinal G Protein-coupled Receptor and its Correlation with Regulation of the Balance between Proliferation and Aberrant Differentiation in Cutaneous Squamous Cell Carcinoma.
Title: Expression Analysis of Retinal G Protein-coupled Receptor and its Correlation with Regulation of the Balance between Proliferation and Aberrant Differentiation in Cutaneous Squamous Cell Carcinoma.
A pan-cancer analysis of RGR opsin expression and its downregulation associated with poor prognosis in glioma.
Title: A pan-cancer analysis of RGR opsin expression and its downregulation associated with poor prognosis in glioma.
Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration.
Title: Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration.
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
Title: A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
Title: Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
The clinical data suggest a variable and slow degeneration of the RPE. A shared chromosomal segment surrounding the RGR gene suggests a single ancestral mutational event underlying all three families.
Title: Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
The results indicate that the cone photoreceptors of humans and cattle express a nonvisual opsin of the Go/RGR or tetraopsin group.
Title: Coexpression of nonvisual opsin, retinal G protein-coupled receptor, and visual pigments in human and bovine cone photoreceptors.
study to systemically analyze the potential role of variants of RGR in retinal diseases results of the suggested that the heterozygous truncation variants in RGR were less likely to be pathogenic
Title: RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.
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
Title: The human Rgr oncogene is overexpressed in T-cell malignancies and induces transformation by acting as a GEF for Ras and Ral.
It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies.
Title: Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 44 MedGen: C3151068 OMIM: 613769 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1774 (e-PCR)
- UniSTS:37685

WI-18987 (e-PCR)
- UniSTS:14697

RH70572 (e-PCR)
- UniSTS:14698

STS-U14910 (e-PCR)
- UniSTS:34249

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of visible light	IEA Inferred from Electronic Annotation more info
involved_in phototransduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: RPE-retinal G protein-coupled receptor

Names: RGR-opsin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009106.1 RefSeqGene

Range

5001..19908

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012720.2 → NP_001012738.1 RPE-retinal G protein-coupled receptor isoform 2

See identical proteins and their annotated locations for NP_001012738.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC022389, U14910

Consensus CDS

CCDS91288.1

UniProtKB/Swiss-Prot

A6NKK7, P47804, Q96FC5

UniProtKB/TrEMBL

A0A494C187

Related

ENSP00000498299.1, ENST00000652092.2

Conserved Domains (1) summary

pfam00001
Location:34 → 250

7tm_1; 7 transmembrane receptor (rhodopsin family)
NM_001012722.2 → NP_001012740.1 RPE-retinal G protein-coupled receptor isoform 3

See identical proteins and their annotated locations for NP_001012740.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.

Source sequence(s)

AC022389, BG912392, U14910

Consensus CDS

CCDS41543.1

UniProtKB/TrEMBL

A0A0S2Z494, A0A494C1E7

Related

ENSP00000350823.5, ENST00000358110.7

Conserved Domains (1) summary

pfam00001
Location:34 → 203

7tm_1; 7 transmembrane receptor (rhodopsin family)
NM_002921.4 → NP_002912.2 RPE-retinal G protein-coupled receptor isoform 1

See identical proteins and their annotated locations for NP_002912.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC022389, BC011349, U14910

Consensus CDS

CCDS7374.1

UniProtKB/TrEMBL

A0A0S2Z498, A0A494C187

Related

ENSP00000352427.4, ENST00000359452.9

Conserved Domains (1) summary

cd15072
Location:17 → 281

7tmA_Retinal_GPR; retinal G protein coupled receptor, member of the class A family of seven-transmembrane G protein-coupled receptors