GNB3

GNB3
Identifiers
Aliases	GNB3, CSNB1H, G protein subunit beta 3, HG2D
External IDs	OMIM: 139130; MGI: 95785; HomoloGene: 55628; GeneCards: GNB3; OMA:GNB3 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	6,847,393 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	124,817,238 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; right hemisphere of cerebellum; ; apex of heart; ; right frontal lobe; ; right ovary; ; retinal pigment epithelium; ; right coronary artery; ; body of uterus; ; left ovary; ; Descending thoracic aorta;
	Top expressed in
	neural layer of retina; ; pineal gland; ; pituitary gland; ; retinal pigment epithelium; ; lens; ; superior cervical ganglion; ; embryo; ; embryo; ; morula; ; epithelium of lens;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GTPase binding; spectrin binding; protein binding; signal transducer activity; GTPase activity;
Cellular component	cell body; neuron projection; plasma membrane; dendrite; extracellular exosome; cytosol;
Biological process	regulation of blood pressure; G protein-coupled receptor signaling pathway; cellular response to glucagon stimulus; signal transduction; protein folding; cell volume homeostasis; regulation of gene expression; regulation of glucose metabolic process; regulation of hormone metabolic process; regulation of fat cell differentiation; regulation of feeding behavior; regulation of cholesterol metabolic process; regulation of triglyceride metabolic process; regulation of locomotion involved in locomotory behavior; regulation of phospholipid metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	2784
	14695
	ENSG00000111664
	ENSMUSG00000023439
	P16520
	Q61011
	NM_001297571; NM_002075
	NM_013530
	NP_001284500; NP_002066
	NP_038558
	Wikidata
View/Edit Human	View/Edit Mouse

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 gene.

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. 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. Additional splice variants may exist for this gene, but they have not been fully described.