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RGS6

regulator of G protein signaling 6, the group of Regulators of G-protein signaling|MicroRNA protein coding host genes

Basic information

Region (hg38): 14:71932428-72566530

Links

ENSG00000182732NCBI:9628OMIM:603894HGNC:10002Uniprot:P49758AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS6 gene.

  • not provided (95 variants)
  • Inborn genetic diseases (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS6 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
9
clinvar
1
clinvar
10
missense
21
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
1
3
non coding
28
clinvar
51
clinvar
79
Total 0 0 21 37 52

Variants in RGS6

This is a list of pathogenic ClinVar variants found in the RGS6 region.

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

Position Type Phenotype Significance ClinVar
14-71964493-C-T Likely benign (Jul 21, 2018)1318175
14-71964738-C-T Benign (Jun 06, 2019)1244827
14-71964747-A-G Benign (Nov 06, 2019)1182809
14-71964864-G-A Inborn genetic diseases Uncertain significance (Jun 27, 2022)2209209
14-71964882-C-T Benign (Jan 05, 2024)784289
14-72351907-G-T Likely benign (Jul 03, 2019)1317574
14-72352071-CTTCTT-C Likely benign (Aug 30, 2023)3020547
14-72352103-C-T Benign/Likely benign (Oct 11, 2023)783692
14-72352104-A-C Inborn genetic diseases Uncertain significance (Jan 06, 2023)2473901
14-72352128-A-G Inborn genetic diseases Uncertain significance (Jan 11, 2023)2056116
14-72352144-C-T Inborn genetic diseases Uncertain significance (Nov 01, 2022)2321664
14-72352157-C-G Likely benign (Aug 28, 2018)758196
14-72352182-A-G Inborn genetic diseases Uncertain significance (Feb 28, 2023)2467396
14-72352201-C-T Benign/Likely benign (Jan 15, 2024)707930
14-72352260-C-T Likely benign (Feb 24, 2020)1317275
14-72454521-G-A Likely benign (Mar 27, 2023)2896312
14-72454567-T-C Inborn genetic diseases Uncertain significance (Mar 28, 2023)2530588
14-72454584-T-C Uncertain significance (Aug 21, 2023)2986940
14-72454709-C-G Benign (Jul 21, 2018)1237670
14-72457981-A-G Likely benign (Nov 15, 2018)1316602
14-72458007-C-T Likely benign (Apr 24, 2019)1317686
14-72458057-T-C Likely benign (Apr 24, 2019)1316876
14-72458284-C-T Likely benign (Dec 31, 2019)798026
14-72458285-T-C Likely benign (Mar 12, 2022)1909596
14-72458300-G-T Inborn genetic diseases Uncertain significance (Aug 11, 2022)2347887

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RGS6protein_codingprotein_codingENST00000553525 17631499
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4420.5581257210261257470.000103
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.701982780.7130.00001533259
Missense in Polyphen3771.2280.51946859
Synonymous0.8098999.20.8970.00000586854
Loss of Function4.34836.20.2210.00000197391

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002090.000209
Ashkenazi Jewish0.00009970.0000992
East Asian0.00005480.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.0001320.000132
Middle Eastern0.00005480.0000544
South Asian0.00006600.0000653
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. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). {ECO:0000269|PubMed:10521509}.;
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
0.0980

Intolerance Scores

loftool
0.605
rvis_EVS
-0.67
rvis_percentile_EVS
15.62

Haploinsufficiency Scores

pHI
0.448
hipred
Y
hipred_score
0.663
ghis
0.634

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.555

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rgs6
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);

Gene ontology

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