RGS18

regulator of G protein signaling 18, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:192158462-192185815

Links

ENSG00000150681

∙ NCBI:64407 ∙ OMIM:607192 ∙ HGNC:14261 ∙ Uniprot:Q9NS28 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

inherited bleeding disorder, platelet-type (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS18 gene.

not_specified (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130782.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			25 clinvar	1 clinvar		26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS18	protein_coding	protein_coding	ENST00000367460	5	27359

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00149	0.887	125730	0	10	125740	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0891	119	116	1.02	0.00000556	1555
Missense in Polyphen		34	39.424	0.86241		516
Synonymous	0.597	32	36.6	0.874	0.00000157	401
Loss of Function	1.38	6	10.9	0.549	5.57e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000169	0.000169
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000327	0.0000327
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(i) alpha-1, G(i) alpha- 2, G(i) alpha-3 and G(q) alpha. {ECO:0000269|PubMed:11042171, ECO:0000269|PubMed:11955952}.;
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;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.596
rvis_EVS: 0.33
rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

pHI: 0.262
hipred: N
hipred_score: 0.480
ghis: 0.437

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.637

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rgs18
Phenotype: hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Zebrafish Information Network

Gene name: rgs18
Affected structure: thrombocyte
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

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