RGS8

regulator of G protein signaling 8, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:182641815-182684587

Links

ENSG00000135824 ∙ NCBI:85397 ∙ OMIM:607189 ∙ HGNC:16810 ∙ Uniprot:P57771 ∙ 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 RGS8 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS8 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in RGS8

This is a list of pathogenic ClinVar variants found in the RGS8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-182646777-C-G		not specified	Uncertain significance (Jun 09, 2022)
1-182646876-G-T		not specified	Uncertain significance (Oct 16, 2023)
1-182648141-C-T		not specified	Uncertain significance (Oct 04, 2022)
1-182648199-T-C		not specified	Uncertain significance (May 10, 2022)
1-182648245-T-A		not specified	Uncertain significance (Jan 04, 2022)
1-182666015-T-A		not specified	Uncertain significance (Dec 14, 2023)
1-182666970-G-T		not specified	Uncertain significance (Nov 15, 2021)
1-182671676-T-C		not specified	Uncertain significance (Feb 23, 2023)
1-182671717-C-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS8	protein_coding	protein_coding	ENST00000258302	6	38473

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.302	0.695	125695	0	1	125696	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	72	110	0.657	0.00000583	1304
Missense in Polyphen		17	34.678	0.49023		418
Synonymous	0.0818	42	42.7	0.984	0.00000228	371
Loss of Function	2.50	3	12.6	0.239	7.48e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
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 via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:18434541). Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity). {ECO:0000250|UniProtKB:P49804, ECO:0000269|PubMed:18434541}.
• Pathway: 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: 0.113

Intolerance Scores

• loftool: 0.498
• rvis_EVS: 0.3
• rvis_percentile_EVS: 72.01

Haploinsufficiency Scores

• pHI: 0.676
• hipred: Y
• hipred_score: 0.796
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.371

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs8

Gene ontology

• Biological process: G protein-coupled acetylcholine receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity;regulation of dopamine receptor signaling pathway
• Cellular component: nucleus;dendrite;extrinsic component of cytoplasmic side of plasma membrane;neuronal cell body membrane;perikaryon
• Molecular function: GTPase activator activity;protein binding