RGS16

regulator of G protein signaling 16, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:182598623-182604389

Links

ENSG00000143333

∙ NCBI:6004 ∙ OMIM:602514 ∙ HGNC:9997 ∙ Uniprot:O15492 ∙ 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 RGS16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS16 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			11 clinvar	1 clinvar		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in RGS16

This is a list of pathogenic ClinVar variants found in the RGS16 region.

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

Position	Phenotype	Significance	ClinVar
1-182600350-G-A	not specified	Uncertain significance (Mar 24, 2023)	2508586
1-182600357-C-T	not specified	Uncertain significance (Feb 28, 2024)	3153844
1-182600362-A-G	not specified	Uncertain significance (Jun 12, 2023)	2559714
1-182600369-G-A	not specified	Uncertain significance (May 27, 2022)	2304267
1-182600423-G-A	not specified	Uncertain significance (Aug 12, 2021)	2394023
1-182600482-G-A	not specified	Uncertain significance (Dec 20, 2023)	3153843
1-182600503-T-C	not specified	Uncertain significance (Apr 24, 2023)	2507439
1-182602010-G-T	not specified	Uncertain significance (Jan 16, 2024)	3153842
1-182602099-G-C	not specified	Uncertain significance (Apr 08, 2024)	3314098
1-182603239-T-C	not specified	Likely benign (Mar 06, 2023)	2458022
1-182603251-C-T	not specified	Uncertain significance (Nov 30, 2021)	2374024
1-182603260-A-G	not specified	Uncertain significance (Feb 22, 2023)	2487175
1-182604241-C-T	not specified	Uncertain significance (Mar 07, 2023)	2494945

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS16	protein_coding	protein_coding	ENST00000367558	5	5786

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000101	0.355	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.426	100	113	0.887	0.00000647	1314
Missense in Polyphen		41	47.196	0.86872		555
Synonymous	0.503	45	49.5	0.909	0.00000311	399
Loss of Function	0.258	8	8.83	0.906	4.61e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000890	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11602604, PubMed:18434541). Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity). {ECO:0000250|UniProtKB:P97428, ECO:0000269|PubMed:11602604, ECO:0000269|PubMed:18434541}.;
Pathway: Myometrial Relaxation and Contraction Pathways;EV release from cardiac cells and their functional effects;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;EGFR1;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.130

Intolerance Scores

loftool: 0.732
rvis_EVS: 0.37
rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

pHI: 0.183
hipred: Y
hipred_score: 0.583
ghis: 0.446

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.824

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rgs16
Phenotype: homeostasis/metabolism phenotype; cellular phenotype; immune system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype;

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;visual perception;regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
Cellular component: cytoplasm;intrinsic component of membrane
Molecular function: GTPase activator activity;protein binding;calmodulin binding