RGS3

regulator of G protein signaling 3, the group of PDZ domain containing|Regulators of G-protein signaling|C2 domain containing

Basic information

Region (hg38): 9:113444731-113597743

Links

ENSG00000138835

∙ NCBI:5998 ∙ OMIM:602189 ∙ HGNC:9999 ∙ Uniprot:P49796 ∙ 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 RGS3 gene.

not_specified (159 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394167.1. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	1 clinvar	4
missense			149 clinvar	9 clinvar	1 clinvar	159
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	149	12	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS3	protein_coding	protein_coding	ENST00000374140	25	153008

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.26e-11	1.00	125636	0	112	125748	0.000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	635	712	0.891	0.0000438	7750
Missense in Polyphen		197	257.25	0.7658		2709
Synonymous	-0.194	302	298	1.01	0.0000189	2418
Loss of Function	3.78	28	59.5	0.471	0.00000286	702

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000581	0.000581
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00104	0.000979
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000491	0.000484
Middle Eastern	0.00104	0.000979
South Asian	0.000604	0.000588
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Down-regulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G- protein-mediated release of inositol phosphates and activation of MAP kinases. {ECO:0000269|PubMed:10749886, ECO:0000269|PubMed:11294858, ECO:0000269|PubMed:8602223, ECO:0000269|PubMed:9858594}.;
Pathway: Axon guidance - Homo sapiens (human);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;Ephrin B reverse signaling;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

loftool: 0.909
rvis_EVS: -0.36
rvis_percentile_EVS: 29.17

Haploinsufficiency Scores

pHI: 0.275
hipred: Y
hipred_score: 0.522
ghis: 0.474

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rgs3
Phenotype: immune system phenotype; hematopoietic system phenotype; respiratory system phenotype;

Zebrafish Information Network

Gene name: rgs3a
Affected structure: whole organism
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: inactivation of MAPK activity;regulation of G protein-coupled receptor signaling pathway;positive regulation of GTPase activity
Cellular component: nucleoplasm;cytosol;plasma membrane
Molecular function: GTPase activator activity;protein binding