RGS20

regulator of G protein signaling 20, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 8:53851794-53959303

Links

ENSG00000147509 ∙ NCBI:8601 ∙ OMIM:607193 ∙ HGNC:14600 ∙ Uniprot:O76081 ∙ 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 RGS20 gene.

• Inborn genetic diseases (16 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS20 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				1	2	3
missense			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	2

Variants in RGS20

This is a list of pathogenic ClinVar variants found in the RGS20 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-53851999-T-C		not specified	Uncertain significance (Sep 16, 2021)
8-53879264-C-A		not specified	Uncertain significance (Jun 23, 2023)
8-53879381-G-A		not specified	Uncertain significance (Feb 27, 2023)
8-53879382-C-A		not specified	Uncertain significance (Feb 27, 2023)
8-53879428-G-A			Benign (Jul 23, 2018)
8-53879486-G-C		not specified	Uncertain significance (Oct 29, 2021)
8-53881024-G-C			Likely benign (May 01, 2023)
8-53939610-G-A		not specified	Uncertain significance (Apr 05, 2023)
8-53939625-C-T		not specified	Uncertain significance (Dec 19, 2022)
8-53939628-A-G		not specified	Uncertain significance (Apr 28, 2022)
8-53939639-G-A		not specified	Uncertain significance (Jun 29, 2022)
8-53939660-G-A		not specified	Uncertain significance (Jun 06, 2023)
8-53939667-G-A			Likely benign (Jul 23, 2018)
8-53939672-C-T		not specified	Uncertain significance (Aug 13, 2021)
8-53939681-A-C		not specified	Uncertain significance (Feb 27, 2024)
8-53946677-A-C		not specified	Uncertain significance (Jun 24, 2022)
8-53954097-A-G			Benign (Apr 30, 2018)
8-53954219-A-G		not specified	Uncertain significance (Dec 21, 2023)
8-53958285-C-T		not specified	Uncertain significance (Dec 06, 2022)
8-53958286-G-A		not specified	Uncertain significance (Jun 29, 2023)
8-53958394-T-G		not specified	Uncertain significance (Aug 11, 2022)
8-53958454-C-T		not specified	Uncertain significance (Mar 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS20	protein_coding	protein_coding	ENST00000297313	6	107496

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000640	0.909	125723	0	13	125736	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	167	214	0.781	0.0000110	2508
Missense in Polyphen		32	48.666	0.65754		612
Synonymous	0.0535	86	86.6	0.993	0.00000487	774
Loss of Function	1.56	9	15.7	0.574	7.85e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000223	0.000214
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000538	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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 selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G- protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity). {ECO:0000250, ECO:0000269|PubMed:12379657}.
• 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;G alpha (z) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0919

Intolerance Scores

• loftool: 0.775
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.0693
• hipred: N
• hipred_score: 0.350
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.866

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs20

Gene ontology

• Biological process: regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
• Cellular component: nucleus;cytoplasm;trans-Golgi network;membrane
• Molecular function: GTPase activator activity;protein binding