RGS7

protein-coding

regulator of G protein signaling 7, the group of Regulators of G-protein signaling

Gene summary

Enables G-protein alpha-subunit binding activity; G-protein beta-subunit binding activity; and GTPase activator activity. Involved in G protein-coupled receptor signaling pathway; negative regulation of G protein-coupled receptor signaling pathway; and positive regulation of GTPase activity. Located in cytosol. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001364886.1

Inheritance

ClinVar variants

U:39B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr1:240,767,636-241,357,374

External References & Databases

Ensembl (ENSG00000182901)

Transcript & Mutation Effects

hg38 • Region Span ~589.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RGS7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001364886.1. 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	4 clinvar	2 clinvar	7
missense			36 clinvar	1 clinvar		37
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	39	5	2	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 55 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001364886.1	RefSeq	NP_001351815.1	17	MANE Select
ENST00000440928.6	Ensembl	ENSP00000404399.2	17	MANE Select
NM_001282773.2	RefSeq	NP_001269702.1	14	Standard
NM_001282775.2	RefSeq	NP_001269704.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

protein folding
G protein-coupled receptor signaling pathway
negative regulation of signal transduction
intracellular signal transduction
positive regulation of GTPase activity

Molecular Function

GTPase activator activity
G-protein beta-subunit binding

Cellular Component

cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000366565
Coding exons: 17
Length: 588977
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125747
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.47	155	269	0.576	0.0000153	3221
Missense (PolyPhen)		76	144.08	0.5275		1712
Synonymous	0.00305	99	99.0	1.00	0.00000645	842
Loss of Function	4.46	7	35.8	0.196	0.00000173	419

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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 (PubMed:10521509, PubMed:10862767). The RGS7/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play a role in synaptic vesicle exocytosis (PubMed:12659861). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264). {ECO:0000269|PubMed:10521509, ECO:0000269|PubMed:10862767, ECO:0000269|PubMed:15897264, ECO:0000305|PubMed:12659861}.;

Recessive Scores

pRec: 0.134

Intolerance Scores

LoFtool: 0.347
RVIS EVS: -0.47
RVIS percentile EVS: 23.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.855

Gene Damage Prediction

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