RGS5

regulator of G protein signaling 5, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:163111120-163321791

Links

ENSG00000143248 ∙ NCBI:8490 ∙ OMIM:603276 ∙ HGNC:10001 ∙ Uniprot:O15539 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

• essential hypertension, genetic (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS5 gene.

• Inborn genetic diseases (4 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS5 gene is commonly pathogenic or not.

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

Variants in RGS5

This is a list of pathogenic ClinVar variants found in the RGS5 region.

Position	Type	Phenotype	Significance	ClinVar
1-163147398-T-C		Inborn genetic diseases	Uncertain significance (Sep 01, 2021)
1-163147479-C-T		Inborn genetic diseases	Uncertain significance (Sep 06, 2022)
1-163152698-T-C		Inborn genetic diseases	Uncertain significance (Jul 12, 2022)
1-163161938-A-G		Inborn genetic diseases	Uncertain significance (Oct 26, 2022)
1-163168296-C-T			Benign (Apr 04, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS5	protein_coding	protein_coding	ENST00000530507	5	210667

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000535	0.713	125720	0	23	125743	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.149	91	95.1	0.957	0.00000478	1228
Missense in Polyphen		25	28.534	0.87615		391
Synonymous	1.46	25	36.2	0.691	0.00000190	330
Loss of Function	0.866	6	8.77	0.684	3.68e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000219	0.000214
Ashkenazi Jewish	0.00	0.00
East Asian	0.000120	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000630	0.0000615
Middle Eastern	0.000120	0.000109
South Asian	0.000329	0.000327
Other	0.00	0.00

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. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity). {ECO:0000250}.
• Pathway: Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.223

Intolerance Scores

• loftool: 0.749
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.0828
• hipred: Y
• hipred_score: 0.667
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs5
• Phenotype: immune system phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

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