RGS10

regulator of G protein signaling 10, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 10:119499817-119542719

Links

ENSG00000148908

∙ NCBI:6001 ∙ OMIM:602856 ∙ HGNC:9992 ∙ Uniprot:O43665 ∙ 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 RGS10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS10 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						0
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1 clinvar	1
Total	0	0	6	0	1

Variants in RGS10

This is a list of pathogenic ClinVar variants found in the RGS10 region.

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

Position	Phenotype	Significance	ClinVar
10-119500117-G-A	not specified	Uncertain significance (Sep 16, 2021)	2249962
10-119500160-C-T	not specified	Uncertain significance (Jun 16, 2023)	2603990
10-119500243-T-C	not specified	Uncertain significance (Aug 14, 2023)	2592065
10-119515586-C-T	not specified	Uncertain significance (Feb 06, 2023)	2481395
10-119515625-T-C	not specified	Uncertain significance (Oct 24, 2024)	3432860
10-119526085-C-T	not specified	Uncertain significance (Nov 09, 2023)	3153760
10-119527403-C-G	not specified	Uncertain significance (Jan 03, 2024)	3153761
10-119527410-C-T	not specified	Uncertain significance (Apr 20, 2024)	3314069
10-119527507-G-A	not specified	Benign (Jan 24, 2024)	2688104

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS10	protein_coding	protein_coding	ENST00000369103	5	42881

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.759	0.239	125740	0	5	125745	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	59	95.7	0.616	0.00000515	1217
Missense in Polyphen		13	36.518	0.35599		435
Synonymous	0.974	30	37.6	0.798	0.00000231	301
Loss of Function	2.48	1	9.05	0.110	4.66e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000273	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:8774883, PubMed:10608901, PubMed:9353196, PubMed:11443111, PubMed:18434541). Modulates the activity of potassium channels that are activated in response to CHRM2 signaling (PubMed:11443111). Activity on GNAZ is inhibited by palmitoylation of the G-protein (PubMed:9353196). {ECO:0000269|PubMed:10608901, ECO:0000269|PubMed:11443111, ECO:0000269|PubMed:18434541, ECO:0000269|PubMed:8774883, ECO:0000269|PubMed:9353196}.;
Pathway: Mesodermal Commitment 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: 0.142

Intolerance Scores

loftool: 0.435
rvis_EVS: -0.08
rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

pHI: 0.156
hipred: Y
hipred_score: 0.800
ghis: 0.628

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.813

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rgs10
Phenotype: cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; limbs/digits/tail phenotype; immune system phenotype; skeleton 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); hematopoietic system phenotype;

Gene ontology

Biological process: response to amphetamine;G protein-coupled acetylcholine receptor signaling pathway;regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
Cellular component: nucleus;cytosol;neuronal cell body;dendritic spine;axon terminus
Molecular function: G-protein alpha-subunit binding;GTPase activator activity