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

Gene ID: 2784, updated on 14-Oct-2021

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
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
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Genomic context

See GNB3 in Genome Data Viewer
Location:
12p13.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6840922..6847393)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6950089..6956557)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 162 Neighboring gene prolyl 3-hydroxylase 3 Neighboring gene cell division cycle associated 3 Neighboring gene ubiquitin specific peptidase 5 Neighboring gene triosephosphate isomerase 1 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Essential hypertension
MedGen: C0085580 OMIM: 145500 GeneReviews: Not available
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Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
GeneReviews: Not available
Night blindness, congenital stationary, type 1h
MedGen: C4310758 OMIM: 617024 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables spectrin binding IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
part_of heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

  1. NG_009100.2 RefSeqGene

    Range
    5715..12183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297571.2NP_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/Swiss-Prot
    P16520
    UniProtKB/TrEMBL
    E9PCP0
    Related
    ENSP00000414734.2, ENST00000435982.6
    Conserved Domains (2) summary
    cd00200
    Location:48339
    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:5895
    7WD40; WD40 repeat [structural motif]
  2. NM_002075.4NP_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
    UniProtKB/TrEMBL
    F1T0G5
    Related
    ENSP00000229264.3, ENST00000229264.8
    Conserved Domains (2) summary
    cd00200
    Location:48340
    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:5895
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6840922..6847393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520953.3XP_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

    Conserved Domains (3) summary
    COG2319
    Location:49307
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:48307
    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:5895
    7WD40; WD40 repeat [structural motif]
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