RGS11

protein-coding

regulator of G protein signaling 11, the group of Regulators of G-protein signaling

Gene summary

The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]

MANE transcript

NM_183337.3

Inheritance

—

ClinVar variants

U:110B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr16:268,301-275,980

External References & Databases

Ensembl (ENSG00000076344)

Transcript & Mutation Effects

hg38 • Region Span ~7.7 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 RGS11 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 112

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_183337.3. 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				2 clinvar		2
missense			108 clinvar	12 clinvar	1 clinvar	121
nonsense					1 clinvar	1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	110	14	2	126

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_183337.3	RefSeq	NP_899180.1	17	MANE Select
ENST00000397770.8	Ensembl	ENSP00000380876.3	17	MANE Select
NM_001286485.2	RefSeq	NP_001273414.1	16	Standard
NM_001286486.2	RefSeq	NP_001273415.1	10	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

G protein-coupled receptor signaling pathway
regulation of 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

protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397770
Coding exons: 17
Length: 7681
Individuals with no LoFs: 123745
Homozygous LoFs: 6
Heterozygous LoFs: 1908
Defined: 125659
p: 0.00765

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.648	309	279	1.11	0.0000173	2987
Missense (PolyPhen)		87	95.452	0.91145		1099
Synonymous	-0.808	122	111	1.10	0.00000704	901
Loss of Function	1.10	24	30.5	0.786	0.00000164	322

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0047	0.0044	notable
Latino/Admixed American	0.0036	0.0036	notable
Ashkenazi Jewish	0.0040	0.0039	notable
East Asian	0.017	0.017	notable
Finnish	0.0048	0.0048	notable
European (Non-Finnish)	0.011	0.010	notable
South Asian	0.0019	0.0019	notable
Other	0.0064	0.0062	notable

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.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.967
RVIS EVS: 1.36
RVIS percentile EVS: 94.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.193

Gene Damage Prediction

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