RGS19

regulator of G protein signaling 19, the group of MicroRNA protein coding host genes|Regulators of G-protein signaling

Basic information

Region (hg38): 20:64073180-64079988

Links

ENSG00000171700 ∙ NCBI:10287 ∙ OMIM:605071 ∙ HGNC:13735 ∙ Uniprot:P49795 ∙ 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 RGS19 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS19 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in RGS19

This is a list of pathogenic ClinVar variants found in the RGS19 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-64073861-C-T		not specified	Uncertain significance (Dec 09, 2023)
20-64073950-G-A		not specified	Uncertain significance (May 24, 2023)
20-64073951-T-C		not specified	Uncertain significance (Mar 24, 2023)
20-64073975-C-T		not specified	Uncertain significance (Dec 15, 2022)
20-64073999-G-C		not specified	Uncertain significance (Mar 29, 2023)
20-64074009-G-C		not specified	Uncertain significance (Jan 03, 2022)
20-64074022-C-T		not specified	Uncertain significance (Apr 09, 2022)
20-64074236-C-G		not specified	Uncertain significance (Nov 07, 2023)
20-64074255-C-T		not specified	Uncertain significance (Jun 06, 2023)
20-64074290-C-T		not specified	Uncertain significance (Jan 16, 2024)
20-64074506-C-T		not specified	Uncertain significance (Dec 05, 2022)
20-64074527-C-T		not specified	Uncertain significance (Sep 27, 2021)
20-64074530-C-T		not specified	Uncertain significance (Nov 17, 2022)
20-64076582-G-A		not specified	Uncertain significance (Nov 08, 2022)
20-64076859-G-T		not specified	Uncertain significance (Nov 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS19	protein_coding	protein_coding	ENST00000395042	5	6790

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.961	0.0386	125658	0	1	125659	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	114	151	0.757	0.0000109	1409
Missense in Polyphen		32	62.466	0.51228		580
Synonymous	-0.884	75	65.9	1.14	0.00000504	413
Loss of Function	2.95	0	10.1	0.00	4.34e-7	117

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)	0.00000880	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G-protein.
• 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;G alpha (z) signalling events;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling;Neurotrophic factor-mediated Trk receptor signaling (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.117
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.165
• hipred: Y
• hipred_score: 0.775
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rgs19

Gene ontology

• Biological process: autophagy;G protein-coupled receptor signaling pathway;small GTPase mediated signal transduction;negative regulation of signal transduction;response to ethanol
• Cellular component: Golgi apparatus;brush border;membrane;clathrin-coated vesicle;membrane raft
• Molecular function: G-protein alpha-subunit binding;protein binding