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GeneBe

RGS5

regulator of G protein signaling 5, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:163111120-163321791

Links

ENSG00000143248NCBI:8490OMIM:603276HGNC:10001Uniprot:O15539AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

  • essential hypertension, genetic (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS5 gene.

  • Inborn genetic diseases (4 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS5 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 1 1
missense 4 4
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 4 0 1

Variants in RGS5

This is a list of pathogenic ClinVar variants found in the RGS5 region.

Position Type Phenotype Significance ClinVar
1-163147398-T-C Inborn genetic diseases Uncertain significance (Sep 01, 2021)link
1-163147479-C-T Inborn genetic diseases Uncertain significance (Sep 06, 2022)link
1-163152698-T-C Inborn genetic diseases Uncertain significance (Jul 12, 2022)link
1-163161938-A-G Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
1-163168296-C-T Benign (Apr 04, 2018)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RGS5protein_codingprotein_codingENST00000530507 5210667
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0005350.7131257200231257430.0000915
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1499195.10.9570.000004781228
Missense in Polyphen2528.5340.87615391
Synonymous1.462536.20.6910.00000190330
Loss of Function0.86668.770.6843.68e-7118

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002190.000214
Ashkenazi Jewish0.000.00
East Asian0.0001200.000109
Finnish0.000.00
European (Non-Finnish)0.00006300.0000615
Middle Eastern0.0001200.000109
South Asian0.0003290.000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity). {ECO:0000250}.;
Pathway
Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.223

Intolerance Scores

loftool
0.749
rvis_EVS
0.04
rvis_percentile_EVS
56.64

Haploinsufficiency Scores

pHI
0.0828
hipred
Y
hipred_score
0.667
ghis
0.589

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.731

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rgs5
Phenotype
immune system phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype;

Gene ontology

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