RGS18 regulator of G protein signaling 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RGS18provided by HGNC
Official Full Name: regulator of G protein signaling 18provided by HGNC
Primary source: HGNC:HGNC:14261
See related: Ensembl:ENSG00000150681 MIM:607192; AllianceGenome:HGNC:14261
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RGS13
Summary: This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 9.4), appendix (RPKM 6.5) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q31.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (192158462..192185815)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (191505098..191532461)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (192127592..192154945)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulator of G protein signalling 18 promotes osteocyte proliferation by activating the extracellular signal-regulated kinase signalling pathway.
Title: Regulator of G protein signalling 18 promotes osteocyte proliferation by activating the extracellular signal‑regulated kinase signalling pathway.
Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on wholeexome sequencing.
Title: Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on whole‑exome sequencing.
Data show that bothregulator of G protein signaling (RGS16 and RGS18) inhibit protease-activated receptor 2 (PAR2)/G-protein, Gi-Go subunits (Galphai/o) -mediated signaling.
Title: The regulators of G protein signaling RGS16 and RGS18 inhibit protease-activated receptor 2/Gi/o signaling through distinct interactions with Gα in live cells.
These findings indicate cross-talk between platelet activation and inhibition pathways at the level of RGS18 and Gq.
Title: Regulator of G-protein signaling 18 integrates activating and inhibitory signaling in platelets.
Data show that that SPL/RGS/SHP1 complexes are present in resting platelets where constitutive phosphorylation of SPL(Y398) creates an atypical binding site for SHP-1.
Title: A newly identified complex of spinophilin and the tyrosine phosphatase, SHP-1, modulates platelet activation by regulating G protein-dependent signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variations in regulator of G-protein signaling genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
molecular cloning and characterization of RGS18 as a regulator of G protein signalling in human platelets
Title: Cloning and characterization of a novel regulator of G protein signalling in human platelets.
gene mapped to chromosome 1.
Title: Assignment of UCK2, ATF3 and RGS18 from human chromosome 1 to porcine chromosomes 4, 9 and 10 with somatic and radiation hybrid panels.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-111760 (e-PCR)
- UniSTS:168731

RH122810 (e-PCR)
- UniSTS:135045

RGS18_780 (e-PCR)
- UniSTS:277665

RGS18_V124 (e-PCR)
- UniSTS:277665

Rgs16 (e-PCR), detects polymorphism
- UniSTS:275689

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in negative regulation of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: regulator of G-protein signaling 18

Names: regulator of G-protein signalling 13; regulator of G-protein signalling 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.