Gnb3 guanine nucleotide binding protein (G protein), beta 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnb3provided by MGI
Official Full Name: guanine nucleotide binding protein (G protein), beta 3provided by MGI
Primary source: MGI:MGI:95785
See related: Ensembl:ENSMUSG00000023439 AllianceGenome:MGI:95785
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hg2d; Gnb-3
Summary: Predicted to enable GTPase binding activity; signaling receptor complex adaptor activity; and spectrin binding activity. Predicted to be involved in several processes, including cell volume homeostasis; regulation of fat cell differentiation; and regulation of lipid metabolic process. Located in dendrite. Part of heterotrimeric G-protein complex. Is expressed in several structures, including eye; ganglia; gut; liver; and spleen. Human ortholog(s) of this gene implicated in artery disease (multiple); congenital stationary night blindness 1H; familial hyperlipidemia; mental depression; and type 2 diabetes mellitus. Orthologous to human GNB3 (G protein subunit beta 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 3.8), heart adult (RPKM 3.5) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F2; 6 59.17 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (124811203..124817238, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (124834240..124840275, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia.
Title: Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia.
A transgenic model carries an extra copy of GNB3, weighs significantly more than wild-type littermates, and has excess fat accumulation. GNB3 is highly expressed in the brain, consistent with G-protein signaling involved in satiety and/or metabolism.
Title: Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
These results suggest that the main role of Gbeta3 in cones is to establish optimal levels of transducin heteromer in the outer segment, thereby indirectly contributing to robust response properties.
Title: Cones respond to light in the absence of transducin β subunit.
The results of this study showed that Gbeta(3) may play a role in synaptic maintenance since in its absence, the number of invaginating rod bipolar dendrites is greatly reduced, a deficit that was not observed at 3 weeks, the end of the developmental period.
Title: Gβ3 is required for normal light ON responses and synaptic maintenance.
Gbeta3 subunit is coexpressed in physiologically ON-type cone bipolar cells with Ggamma13 and Gbeta4 but is not present in OFF-type bipolar cells.
Title: G protein subunit G gamma 13 is coexpressed with G alpha o, G beta 3, and G beta 4 in retinal ON bipolar cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gnb3 (e-PCR), detects polymorphism
- UniSTS:496682

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables GTPase binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor complex adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables spectrin binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell volume homeostasis	ISO Inferred from Sequence Orthology more info
involved_in regulation of cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of fat cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of hormone metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of phospholipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of triglyceride metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	IPI Inferred from Physical Interaction more info	PubMed
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed

General protein information

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

Names: heterotrimeric guanine nucleotide-binding protein 2d; 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.

mRNA and Protein(s)

NM_013530.1 → NP_038558.1 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

See identical proteins and their annotated locations for NP_038558.1

Status: VALIDATED

Source sequence(s)

BC018239

Consensus CDS

CCDS20532.1

UniProtKB/Swiss-Prot

Q61011

UniProtKB/TrEMBL

Q54AE3, Q8BMQ1

Related

ENSMUSP00000024206.6, ENSMUST00000024206.6

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]