RGS7

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

Basic information

Region (hg38): 1:240767635-241357374

Links

ENSG00000182901 ∙ NCBI:6000 ∙ OMIM:602517 ∙ HGNC:10003 ∙ Uniprot:P49802 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS7 gene.

• Inborn genetic diseases (12 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS7 gene is commonly pathogenic or not.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant					1	1
non coding						0
Total	0	0	12	2	3

Variants in RGS7

This is a list of pathogenic ClinVar variants found in the RGS7 region.

Position	Type	Phenotype	Significance	ClinVar
1-240776206-G-C		Inborn genetic diseases	Uncertain significance (Apr 12, 2022)
1-240776211-C-G			Benign (Oct 23, 2018)
1-240801489-C-T		Inborn genetic diseases	Uncertain significance (Nov 30, 2022)
1-240801493-C-G		Inborn genetic diseases	Uncertain significance (Mar 21, 2023)
1-240801508-A-C		Inborn genetic diseases	Uncertain significance (Jun 01, 2023)
1-240806305-G-T		Inborn genetic diseases	Uncertain significance (Oct 12, 2021)
1-240811929-C-T			Likely benign (May 17, 2018)
1-240813625-C-G		Inborn genetic diseases	Uncertain significance (Dec 14, 2022)
1-240814771-A-G		Inborn genetic diseases	Uncertain significance (Jun 29, 2023)
1-240827155-T-C			Benign (Dec 31, 2019)
1-240868599-C-T			Benign (Dec 31, 2019)
1-240870084-C-G		Inborn genetic diseases	Uncertain significance (Sep 22, 2021)
1-240870091-T-G		Inborn genetic diseases	Uncertain significance (Sep 27, 2021)
1-240870094-C-G		Inborn genetic diseases	Uncertain significance (Sep 22, 2021)
1-240870097-T-C			Likely benign (Aug 13, 2018)
1-240870101-C-G		Inborn genetic diseases	Uncertain significance (Sep 22, 2021)
1-240936617-T-C		Inborn genetic diseases	Uncertain significance (Dec 15, 2022)
1-241098707-G-A		Inborn genetic diseases	Uncertain significance (Dec 06, 2021)
1-241098716-G-A		Inborn genetic diseases	Uncertain significance (Nov 10, 2022)
1-241098753-C-T		Inborn genetic diseases	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS7	protein_coding	protein_coding	ENST00000366565	17	588977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.777	0.223	125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.47	155	269	0.576	0.0000153	3221
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

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}.
• Pathway: 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;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Chaperonin-mediated protein folding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Protein folding;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.347
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.944
• hipred: Y
• hipred_score: 0.784
• ghis: 0.647

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.855

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs7
• Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: protein folding;G protein-coupled receptor signaling pathway;negative regulation of signal transduction;intracellular signal transduction;positive regulation of GTPase activity
• Cellular component: cytosol;plasma membrane
• Molecular function: GTPase activator activity;G-protein beta-subunit binding