RGS17

regulator of G protein signaling 17, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 6:153004458-153131282

Links

ENSG00000091844 ∙ NCBI:26575 ∙ OMIM:607191 ∙ HGNC:14088 ∙ Uniprot:Q9UGC6 ∙ 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 RGS17 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS17 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			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in RGS17

This is a list of pathogenic ClinVar variants found in the RGS17 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-153011669-T-C		not specified	Uncertain significance (Aug 21, 2023)
6-153024267-T-G		not specified	Uncertain significance (Jan 03, 2024)
6-153024447-T-C		not specified	Uncertain significance (Sep 14, 2022)
6-153024489-G-A		not specified	Uncertain significance (Mar 27, 2023)
6-153026512-T-C		not specified	Uncertain significance (Feb 28, 2024)
6-153026517-C-G		not specified	Uncertain significance (Aug 22, 2022)
6-153043966-G-A		not specified	Uncertain significance (Jul 13, 2022)
6-153043982-G-C		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS17	protein_coding	protein_coding	ENST00000367225	4	126791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.267	0.728	125736	0	8	125744	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.937	79	106	0.744	0.00000487	1397
Missense in Polyphen		12	29.689	0.40419		401
Synonymous	0.628	30	34.7	0.864	0.00000158	366
Loss of Function	2.42	3	12.1	0.248	7.42e-7	131

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	0.0000924	0.0000924
European (Non-Finnish)	0.0000444	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:15096504). Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity). {ECO:0000250|UniProtKB:Q9QZB0, ECO:0000269|PubMed:15096504}.
• 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 (z) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.666
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.796
• hipred: Y
• hipred_score: 0.504
• ghis: 0.596

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs17

Gene ontology

• Biological process: response to amphetamine;negative regulation of signal transduction;positive regulation of GTPase activity
• Cellular component: nucleus;cytoplasm;membrane;cell junction;neuron projection;synapse
• Molecular function: GTPase activator activity;protein binding