RGS21

regulator of G protein signaling 21, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:192316992-192367285

Links

ENSG00000253148 ∙ NCBI:431704 ∙ OMIM:612407 ∙ HGNC:26839 ∙ Uniprot:Q2M5E4 ∙ 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 RGS21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS21 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in RGS21

This is a list of pathogenic ClinVar variants found in the RGS21 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-192347335-A-T		not specified	Uncertain significance (Jan 14, 2025)
1-192347339-C-T		not specified	Uncertain significance (Jan 09, 2024)
1-192347345-C-T		not specified	Uncertain significance (Jan 10, 2025)
1-192352098-A-G		not specified	Uncertain significance (Apr 26, 2023)
1-192352104-A-C		not specified	Uncertain significance (Dec 27, 2023)
1-192352106-T-C		not specified	Uncertain significance (Jan 22, 2024)
1-192352119-G-A		not specified	Uncertain significance (Jan 22, 2025)
1-192352124-G-T		not specified	Uncertain significance (Dec 07, 2024)
1-192352129-T-A		not specified	Uncertain significance (Nov 21, 2024)
1-192352177-T-G		not specified	Uncertain significance (Jul 23, 2024)
1-192352206-C-G		not specified	Uncertain significance (Sep 03, 2024)
1-192352206-C-T		not specified	Uncertain significance (Jan 07, 2025)
1-192366075-T-C		not specified	Uncertain significance (May 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS21	protein_coding	protein_coding	ENST00000417209	4	50294

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000380	0.393	124664	0	47	124711	0.000188

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.359	86	77.1	1.12	0.00000374	1013
Missense in Polyphen		39	32.444	1.2021		417
Synonymous	0.141	26	26.9	0.965	0.00000146	259
Loss of Function	0.233	7	7.70	0.909	4.46e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000381	0.000381
Ashkenazi Jewish	0.00	0.00
East Asian	0.00106	0.00106
Finnish	0.00	0.00
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.00106	0.00106
South Asian	0.0000328	0.0000327
Other	0.000178	0.000165

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. {ECO:0000250}.
• Pathway: Signaling by GPCR;Signal Transduction;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.730
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.307
• hipred: N
• hipred_score: 0.199
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs21

Gene ontology

• Biological process: negative regulation of signal transduction