RGS6

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

Basic information

Region (hg38): 14:71932429-72566530

Links

ENSG00000182732 ∙ NCBI:9628 ∙ OMIM:603894 ∙ HGNC:10002 ∙ Uniprot:P49758 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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				10	1	11
missense			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	4	1	7
non coding				29	52	81
Total	0	0	29	39	53

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)
14-71964738-C-T			Benign (Jun 06, 2019)
14-71964747-A-G			Benign (Nov 06, 2019)
14-71964838-C-T		not specified	Uncertain significance (Nov 18, 2023)
14-71964864-G-A		not specified	Uncertain significance (Jun 27, 2022)
14-71964882-C-T			Benign (Jan 05, 2024)
14-72351907-G-T			Likely benign (Jul 03, 2019)
14-72352071-CTTCTT-C			Likely benign (Aug 30, 2023)
14-72352103-C-T			Benign/Likely benign (Oct 11, 2023)
14-72352104-A-C		not specified	Uncertain significance (Jan 06, 2023)
14-72352128-A-G		not specified	Uncertain significance (Jan 11, 2023)
14-72352144-C-T		not specified	Uncertain significance (Nov 01, 2022)
14-72352157-C-G			Likely benign (Aug 28, 2018)
14-72352182-A-G		not specified	Uncertain significance (Feb 28, 2023)
14-72352183-G-A		not specified	Uncertain significance (Dec 11, 2023)
14-72352201-C-T			Benign/Likely benign (Jan 15, 2024)
14-72352260-C-T			Likely benign (Feb 24, 2020)
14-72454521-G-A			Likely benign (Mar 27, 2023)
14-72454567-T-C		not specified	Uncertain significance (Mar 28, 2023)
14-72454584-T-C			Uncertain significance (Aug 21, 2023)
14-72454709-C-G			Benign (Jul 21, 2018)
14-72457981-A-G			Likely benign (Nov 15, 2018)
14-72458007-C-T			Likely benign (Apr 24, 2019)
14-72458057-T-C			Likely benign (Apr 24, 2019)
14-72458284-C-T			Likely benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS6	protein_coding	protein_coding	ENST00000553525	17	631499

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.442	0.558	125721	0	26	125747	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	198	278	0.713	0.0000153	3259
Missense in Polyphen		37	71.228	0.51946		859
Synonymous	0.809	89	99.2	0.897	0.00000586	854
Loss of Function	4.34	8	36.2	0.221	0.00000197	391

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000209	0.000209
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.0000548	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000660	0.0000653
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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