RGS22

regulator of G protein signaling 22, the group of Regulators of G-protein signaling|MicroRNA protein coding host genes

Basic information

Region (hg38): 8:99960935-100131268

Links

ENSG00000132554 ∙ NCBI:26166 ∙ OMIM:615650 ∙ HGNC:24499 ∙ Uniprot:Q8NE09 ∙ 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 RGS22 gene.

• Inborn genetic diseases (37 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS22 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				2	3	5
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	3	3

Variants in RGS22

This is a list of pathogenic ClinVar variants found in the RGS22 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-99962441-A-G			Benign (Mar 30, 2018)
8-99962943-T-C			Benign (Dec 31, 2019)
8-99962966-A-G		not specified	Uncertain significance (Feb 17, 2024)
8-99965339-C-T		not specified	Uncertain significance (Mar 05, 2024)
8-99965427-C-T		not specified	Uncertain significance (Jun 22, 2021)
8-99977927-T-A		not specified	Uncertain significance (Mar 16, 2022)
8-99977931-C-T		not specified	Uncertain significance (Jun 14, 2022)
8-99977951-T-A		not specified	Uncertain significance (Aug 02, 2021)
8-99981974-C-T		not specified	Uncertain significance (Nov 22, 2021)
8-99982061-A-G		not specified	Uncertain significance (Feb 23, 2023)
8-99987487-G-C		not specified	Uncertain significance (Dec 18, 2023)
8-99999276-G-A		not specified	Uncertain significance (Sep 22, 2022)
8-100002213-G-C		not specified	Uncertain significance (Jun 21, 2023)
8-100002324-T-C		not specified	Uncertain significance (Oct 03, 2023)
8-100002352-C-T		not specified	Uncertain significance (Jan 31, 2024)
8-100003998-T-C		not specified	Uncertain significance (Feb 15, 2023)
8-100004064-G-A		not specified	Uncertain significance (Jul 14, 2022)
8-100004082-A-G		not specified	Uncertain significance (Jun 29, 2023)
8-100006027-T-C		not specified	Uncertain significance (Aug 02, 2023)
8-100008448-T-C		not specified	Uncertain significance (Jan 26, 2022)
8-100008526-A-G		not specified	Uncertain significance (Mar 23, 2022)
8-100008551-C-T		not specified	Likely benign (Sep 16, 2021)
8-100038943-G-C		not specified	Uncertain significance (Apr 12, 2022)
8-100038971-T-C		not specified	Uncertain significance (Oct 16, 2023)
8-100038992-G-A		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS22	protein_coding	protein_coding	ENST00000360863	27	170333

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.64e-30	0.0481	124564	1	229	124794	0.000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.408	580	608	0.953	0.0000291	8341
Missense in Polyphen		193	201.15	0.9595		2854
Synonymous	1.01	192	211	0.912	0.0000105	2209
Loss of Function	1.86	56	73.2	0.765	0.00000351	966

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00502	0.00493
Ashkenazi Jewish	0.000514	0.000497
East Asian	0.000894	0.000835
Finnish	0.000373	0.000371
European (Non-Finnish)	0.000439	0.000433
Middle Eastern	0.000894	0.000835
South Asian	0.00125	0.00118
Other	0.000834	0.000825

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;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0842

Intolerance Scores

• loftool: 0.948
• rvis_EVS: 1.14
• rvis_percentile_EVS: 92.37

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.146
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs22

Gene ontology

• Biological process: negative regulation of signal transduction
• Cellular component: nucleus;cytoplasm