RGS11

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

Basic information

Region (hg38): 16:268300-275980

Links

ENSG00000076344 ∙ NCBI:8786 ∙ OMIM:603895 ∙ HGNC:9993 ∙ Uniprot:O94810 ∙ 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 RGS11 gene.

• Inborn genetic diseases (25 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS11 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			22	5	1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	6	1

Variants in RGS11

This is a list of pathogenic ClinVar variants found in the RGS11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-269279-C-T		not specified	Uncertain significance (Jan 29, 2024)
16-269324-G-C		not specified	Uncertain significance (Jun 12, 2023)
16-269503-C-T			Likely benign (Mar 01, 2023)
16-269504-G-A		not specified	Uncertain significance (Sep 20, 2023)
16-269548-T-C			Benign (Feb 25, 2021)
16-270567-C-T		not specified	Uncertain significance (Nov 06, 2023)
16-270591-C-T		not specified	Uncertain significance (May 24, 2023)
16-270645-C-T		not specified	Uncertain significance (Oct 06, 2021)
16-270745-C-T		not specified	Uncertain significance (Mar 08, 2024)
16-270763-G-C			Uncertain significance (Feb 08, 2023)
16-270769-G-A		not specified	Uncertain significance (Mar 07, 2024)
16-270783-G-A		not specified	Uncertain significance (May 09, 2023)
16-270792-C-T		not specified	Uncertain significance (Feb 06, 2023)
16-271029-C-T		not specified	Likely benign (Mar 08, 2024)
16-271049-C-G		not specified	Uncertain significance (Jul 20, 2022)
16-271077-G-A		not specified	Uncertain significance (Dec 16, 2022)
16-271080-G-A		not specified	Uncertain significance (May 11, 2022)
16-271086-T-A		not specified	Uncertain significance (Jun 27, 2022)
16-271214-A-G		not specified	Uncertain significance (Dec 30, 2023)
16-271227-C-T		not specified	Likely benign (Jul 09, 2021)
16-271268-G-A		not specified	Uncertain significance (Jun 29, 2023)
16-271272-C-T		not specified	Likely benign (Sep 26, 2022)
16-271292-C-G		not specified	Uncertain significance (May 04, 2022)
16-271457-C-T		not specified	Uncertain significance (Jan 19, 2022)
16-272918-T-C		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS11	protein_coding	protein_coding	ENST00000397770	17	7681

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.33e-14	0.221	123745	6	1908	125659	0.00765

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.648	309	279	1.11	0.0000173	2987
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00827	0.00800
Ashkenazi Jewish	0.00400	0.00388
East Asian	0.0167	0.0165
Finnish	0.00483	0.00482
European (Non-Finnish)	0.0111	0.0104
Middle Eastern	0.0167	0.0165
South Asian	0.00190	0.00190
Other	0.00643	0.00622

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.
• 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: 0.111

Intolerance Scores

• loftool: 0.967
• rvis_EVS: 1.36
• rvis_percentile_EVS: 94.45

Haploinsufficiency Scores

• pHI: 0.0992
• hipred: N
• hipred_score: 0.342
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.193

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs11
• 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); vision/eye phenotype

Gene ontology

• 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
• Cellular component: protein-containing complex
• Molecular function: GTPase activator activity;G-protein beta-subunit binding