RGS14 regulator of G protein signaling 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RGS14provided by HGNC
Official Full Name: regulator of G protein signaling 14provided by HGNC
Primary source: HGNC:HGNC:9996
See related: Ensembl:ENSG00000169220 MIM:602513; AllianceGenome:HGNC:9996
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
Summary: This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases 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 15.0), lymph node (RPKM 11.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (177357924..177372596)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177901146..177915812)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176784925..176799597)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

RGS14 expression in CA2 hippocampus, amygdala, and basal ganglia: Implications for human brain physiology and disease.
Title: RGS14 expression in CA2 hippocampus, amygdala, and basal ganglia: Implications for human brain physiology and disease.
RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein.
Title: RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal phosphate uptake via binding to the NHERF1 scaffolding protein.
Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons.
Title: Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons.
Genetic Polymorphisms of RGS14 and Renal Stone Disease.
Title: Genetic Polymorphisms of RGS14 and Renal Stone Disease.
The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.
Title: The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.
We discovered 154 SNPs from five independent regions associated with FGF23 concentration. A locus strongly associated with variations in FGF23 concentration is rs11741640, within RGS14 and upstream of SLC34A1 (a gene involved in renal phosphate transport).
Title: Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.
The findings of this study suggested new pre- and postsynaptic regulatory functions of RGS14 and RGS14 variants, specific to the primate brain, and provide evidence for unconventional roles of RGS14 in the nuclei of striatal neuron.
Title: Regulator of G protein signaling 14 (RGS14) is expressed pre- and postsynaptically in neurons of hippocampus, basal ganglia, and amygdala of monkey and human brain.
Data support the notion that the Galpha, but not Gbetagamma, arm of the Gi/o signalling is involved in TRPC4 activation and unveil new roles for RGS and RGS14 in fine-tuning TRPC4 activities.
Title: Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o.
The RBD region associates with the RGS domain region, producing an intramolecular interaction within RGS14 that enhances the GTPase activating function.
Title: The Ras-binding domain region of RGS14 regulates its functional interactions with heterotrimeric G proteins.
RGS14 can form complexes with GPCRs in cells that are dependent on Galpha(i/o) and these RGS14.Galpha(i1).GPCR complexes may be substrates for other signaling partners such as Ric-8A
Title: G protein-coupled receptors and resistance to inhibitors of cholinesterase-8A (Ric-8A) both regulate the regulator of g protein signaling 14 RGS14·Gαi1 complex in live cells.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D5S1624E (e-PCR)
- UniSTS:27459

RGS14_3061 (e-PCR)
- UniSTS:462491

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IEA Inferred from Electronic Annotation more info
enables GDP-dissociation inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activating protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor complex adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in cell division	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleocytoplasmic transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet-derived growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription in response to stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in spindle organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in zygote asymmetric cell division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in PML body	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: regulator of G-protein signaling 14

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.

mRNA and Protein(s)

NM_001366617.1 → NP_001353546.1 regulator of G-protein signaling 14 isoform 2

Status: REVIEWED

Source sequence(s)

AC146507

UniProtKB/TrEMBL

A0A024R7N4

Conserved Domains (5) summary

smart00455
Location:376 → 445

RBD; Raf-like Ras-binding domain

cd01817
Location:303 → 376

RGS12_RBD; Ubiquitin domain of RGS12 and RGS14

cd08743
Location:58 → 186

RGS_RGS14; Regulator of G protein signaling (RGS) domain found in the RGS14 protein

smart00390
Location:499 → 521

GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases

pfam16613
Location:189 → 273

RGS12_us1; Unstructured region of RGS12
NM_001366618.1 → NP_001353547.1 regulator of G-protein signaling 14 isoform 3

Status: REVIEWED

Source sequence(s)

AC146507
NM_006480.5 → NP_006471.2 regulator of G-protein signaling 14 isoform 1

See identical proteins and their annotated locations for NP_006471.2

Status: REVIEWED

Source sequence(s)

BC014094

Consensus CDS

CCDS43405.1

UniProtKB/Swiss-Prot

O43566, Q8TD62

Related

ENSP00000386229.3, ENST00000408923.8

Conserved Domains (4) summary

smart00455
Location:375 → 444

RBD; Raf-like Ras-binding domain

cd01817
Location:303 → 375

RGS12_RBD; Ubiquitin domain of RGS12 and RGS14

cd08743
Location:58 → 186

RGS_RGS14; Regulator of G protein signaling (RGS) domain found in the RGS14 protein

smart00390
Location:498 → 520

GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases