RGS19

protein-coding

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

Gene summary

G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_005873.3

Inheritance

—

ClinVar variants

U:34B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr20:64,073,181-64,079,988

External References & Databases

Ensembl (ENSG00000171700)

Transcript & Mutation Effects

hg38 • Region Span ~6.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RGS19 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 31

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005873.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			30 clinvar	1 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	34	1	0	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005873.3	RefSeq	NP_005864.1	5	MANE Select
ENST00000395042.2	Ensembl	ENSP00000378483.1	5	MANE Select
NM_001039467.2	RefSeq	NP_001034556.1	5	Standard
ENST00000332298.9	Ensembl	ENSP00000333194.5	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Myometrial Relaxation and Contraction Pathways
Calcium Regulation in the Cardiac Cell
Signaling by GPCR
Signal Transduction
GPCR signaling-G alpha q

Biological Process

autophagy
G protein-coupled receptor signaling pathway
small GTPase mediated signal transduction
negative regulation of signal transduction
response to ethanol

Molecular Function

G-protein alpha-subunit binding
protein binding

Cellular Component

Golgi apparatus
brush border
membrane
clathrin-coated vesicle
membrane raft

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395042
Coding exons: 5
Length: 6790
Individuals with no LoFs: 125658
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125659
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.06	114	151	0.757	0.0000109	1409
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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.;

Recessive Scores

pRec: 0.153

Intolerance Scores

LoFtool: 0.117
RVIS EVS: -0.07
RVIS percentile EVS: 48.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.801

Gene Damage Prediction

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