RGS22

protein-coding

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

Gene summary

Enables G-protein alpha-subunit binding activity. Predicted to be involved in negative regulation of signal transduction. Located in cytosol and fibrillar center. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_015668.5

Inheritance

—

ClinVar variants

U:145B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr8:99,960,936-100,131,268

External References & Databases

Ensembl (ENSG00000132554)

Transcript & Mutation Effects

hg38 • Region Span ~170.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RGS22 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 152

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015668.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar	3 clinvar	6
missense			143 clinvar	10 clinvar		153
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	145	12	3	160

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015668.5	RefSeq	NP_056483.3	27	MANE Select
ENST00000360863.11	Ensembl	ENSP00000354109.6	27	MANE Select
NM_001286692.2	RefSeq	NP_001273621.1	27	Standard
NM_001286693.2	RefSeq	NP_001273622.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
G alpha (i) signalling events
GPCR downstream signalling

Biological Process

negative regulation of signal transduction

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360863
Coding exons: 27
Length: 170333
Individuals with no LoFs: 124564
Homozygous LoFs: 1
Heterozygous LoFs: 229
Defined: 124794
p: 0.000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.408	580	608	0.953	0.0000291	8341
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0029	0.0028	notable
Latino/Admixed American	0.0021	0.0020	notable
Ashkenazi Jewish	0.00051	0.00050	rare
East Asian	0.00089	0.00083	rare
Finnish	0.00037	0.00037	rare
European (Non-Finnish)	0.00044	0.00043	rare
South Asian	0.0012	0.0012	notable
Other	0.00083	0.00082	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.0842

Intolerance Scores

LoFtool: 0.948
RVIS EVS: 1.14
RVIS percentile EVS: 92.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.161

Gene Damage Prediction

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