GNB3 G protein subunit beta 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNB3provided by HGNC
Official Full Name: G protein subunit beta 3provided by HGNC
Primary source: HGNC:HGNC:4400
See related: Ensembl:ENSG00000111664 MIM:139130; AllianceGenome:HGNC:4400
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: HG2D; CSNB1H
Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
Expression: Ubiquitous expression in ovary (RPKM 2.1), heart (RPKM 1.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6840925..6847393)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6850217..6856691)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (6950089..6956557)

Chromosome 12 - NC_000012.12 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 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?

Association of GNB3, ACE polymorphisms with POAG and NTG.
Title: Association of GNB3, ACE polymorphisms with POAG and NTG.
G Protein Subunit Beta 3 (GNB3) Variant Is Associated with Biochemical Changes in Brazilian Patients with Hypertension.
Title: G Protein Subunit Beta 3 (GNB3) Variant Is Associated with Biochemical Changes in Brazilian Patients with Hypertension.
Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity.
Title: Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity.
Endothelium function biomarkers and carotid intima-media thickness changes in relation to NOS3 (rs2070744) and GNB3 (rs5443) genes polymorphism in the essential arterial hypertension.
Title: Endothelium function biomarkers and carotid intima-media thickness changes in relation to NOS3 (rs2070744) and GNB3 (rs5443) genes polymorphism in the essential arterial hypertension.
Meta-analysis of the genetic association between maternal GNB3 C825T polymorphism and risk of pre-eclampsia.
Title: Meta-analysis of the genetic association between maternal GNB3 C825T polymorphism and risk of pre-eclampsia.
Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics.
Title: Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics.
Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a Southeastern European Caucasian Cluster Headache Population.
Title: Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a Southeastern European Caucasian Cluster Headache Population.
Genetic polymorphisms of GNB3 (TT genotype) impact event-free survival in black subjects with Heart Failure with Reduced Ejection Fraction.
Title: Adrenergic Polymorphisms and Survival in African Americans With Heart Failure: Results From A-HeFT.
The results show that the A allele of rs1801157 (SDF1B G801A) is protective for coronary artery disease, whilst the presence of the T allele of rs5443 (GNB3 C825T) might be a risk factor for this disease.
Title: Association of SDF1β (G801A) and GNB3 (C825T) polymorphisms with the incidence and severity of coronary artery disease.
No evidence for a significant association between GNB3 C825T SNP and susceptibility to diabetic erectile dysfunction in a Tunisian population.
Title: Comprehensive insight into functional interaction between GNB3 C825T and eNOS T-786C, G894T gene polymorphisms and association with susceptibility to diabetic erectile dysfunction.

Submit: New GeneRIF Correction See all GeneRIFs (237)

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

Associated conditions

Description	Tests
Congenital stationary night blindness 1H MedGen: C4310758 OMIM: 617024 GeneReviews: Not available	Compare labs
Essential hypertension, genetic MedGen: CN305331 OMIM: 145500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. 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

STS-U47926 (e-PCR)
- UniSTS:48399

RH76209 (e-PCR)
- UniSTS:89372

STS-H92898 (e-PCR)
- UniSTS:41540

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor complex adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables spectrin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell volume homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of blood pressure	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cholesterol metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of fat cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
NOT involved_in regulation of feeding behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of glucose metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of hormone metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
NOT involved_in regulation of locomotion involved in locomotory behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of phospholipid metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of triglyceride metabolic process	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

Names: G protein, beta-3 subunit; GTP-binding regulatory protein beta-3 chain; guanine nucleotide binding protein (G protein), beta polypeptide 3; guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3; heterotrimeric guanine nucleotide-binding protein 2D; hypertension associated protein; transducin beta chain 3

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.

Genomic

NG_009100.2 RefSeqGene

Range

5715..12183

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001297571.2 → NP_001284500.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 2

See identical proteins and their annotated locations for NP_001284500.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK313091, AU143349, BC015920, U47924

Consensus CDS

CCDS73427.1

UniProtKB/TrEMBL

E9PCP0, F1T0G4

Related

ENSP00000414734.2, ENST00000435982.6

Conserved Domains (2) summary

cd00200
Location:48 → 339

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:58 → 95

7WD40; WD40 repeat [structural motif]
NM_002075.4 → NP_002066.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 1

See identical proteins and their annotated locations for NP_002066.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AU143349, BC002454, U47924

Consensus CDS

CCDS8564.1

UniProtKB/Swiss-Prot

P16520, Q96B71, Q9BQC0

UniProtKB/TrEMBL

F1T0G4, F1T0G5

Related

ENSP00000229264.3, ENST00000229264.8

Conserved Domains (2) summary

cd00200
Location:48 → 340

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:58 → 95

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

6840925..6847393

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428702.1 → XP_047284658.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X1
XM_047428703.1 → XP_047284659.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X2

UniProtKB/Swiss-Prot

P16520, Q96B71, Q9BQC0

UniProtKB/TrEMBL

F1T0G5
XM_011520953.4 → XP_011519255.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X1

See identical proteins and their annotated locations for XP_011519255.1

UniProtKB/TrEMBL

F1T0G4

Conserved Domains (3) summary

COG2319
Location:49 → 307

WD40; WD40 repeat [General function prediction only]

cd00200
Location:48 → 307

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:58 → 95

7WD40; WD40 repeat [structural motif]