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GeneBe

RGS7

regulator of G protein signaling 7, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:240767635-241357374

Links

ENSG00000182901NCBI:6000OMIM:602517HGNC:10003Uniprot:P49802AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS7 gene.

  • Inborn genetic diseases (15 variants)
  • not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
2
clinvar
4
missense
15
clinvar
15
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 15 2 2

Variants in RGS7

This is a list of pathogenic ClinVar variants found in the RGS7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-240776200-G-A not specified Uncertain significance (Oct 06, 2023)3153927
1-240776206-G-C not specified Uncertain significance (Apr 12, 2022)2282865
1-240776211-C-G Benign (Oct 23, 2018)713887
1-240800671-C-T Likely benign (Jan 01, 2024)3025043
1-240801466-C-T not specified Uncertain significance (Dec 27, 2023)3153926
1-240801489-C-T not specified Uncertain significance (Nov 30, 2022)2400678
1-240801493-C-G not specified Uncertain significance (Mar 21, 2023)2527851
1-240801508-A-C not specified Uncertain significance (Jun 01, 2023)2555189
1-240806305-G-T not specified Uncertain significance (Oct 12, 2021)2215772
1-240811929-C-T Likely benign (May 17, 2018)746408
1-240813625-C-G not specified Uncertain significance (Dec 14, 2022)2334731
1-240814771-A-G not specified Uncertain significance (Jun 29, 2023)2591778
1-240814777-T-C not specified Uncertain significance (Sep 22, 2023)3153929
1-240816388-T-C not specified Uncertain significance (Feb 03, 2022)3153928
1-240827155-T-C Benign (Dec 31, 2019)787765
1-240868599-C-T Benign (Dec 31, 2019)791845
1-240870084-C-G not specified Uncertain significance (Sep 22, 2021)2249205
1-240870091-T-G not specified Uncertain significance (Sep 27, 2021)2249087
1-240870094-C-G not specified Uncertain significance (Sep 22, 2021)2231606
1-240870097-T-C Likely benign (Aug 13, 2018)764846
1-240870101-C-G not specified Uncertain significance (Sep 22, 2021)2249204
1-240936617-T-C not specified Uncertain significance (Dec 15, 2022)2335877
1-241098707-G-A not specified Uncertain significance (Dec 06, 2021)2350977
1-241098716-G-A not specified Uncertain significance (Nov 10, 2022)2325758
1-241098753-C-T not specified Uncertain significance (Aug 17, 2021)2246311

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RGS7protein_codingprotein_codingENST00000366565 17588977
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7770.223125738091257470.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.471552690.5760.00001533221
Missense in Polyphen76144.080.52751712
Synonymous0.003059999.01.000.00000645842
Loss of Function4.46735.80.1960.00000173419

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008680.0000868
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003520.0000352
Middle Eastern0.000.00
South Asian0.00003280.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play a role in synaptic vesicle exocytosis (PubMed:12659861). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264). {ECO:0000269|PubMed:10521509, ECO:0000269|PubMed:10862767, ECO:0000269|PubMed:15897264, ECO:0000305|PubMed:12659861}.;
Pathway
Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Signal Transduction;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Chaperonin-mediated protein folding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Protein folding;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.134

Intolerance Scores

loftool
0.347
rvis_EVS
-0.47
rvis_percentile_EVS
23.04

Haploinsufficiency Scores

pHI
0.944
hipred
Y
hipred_score
0.784
ghis
0.647

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.855

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rgs7
Phenotype
vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
protein folding;G protein-coupled receptor signaling pathway;negative regulation of signal transduction;intracellular signal transduction;positive regulation of GTPase activity
Cellular component
cytosol;plasma membrane
Molecular function
GTPase activator activity;G-protein beta-subunit binding