GNB3

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.^[5][6]

AliasesGNB3, CSNB1H, G protein subunit beta 3, HG2D

External IDsOMIM: 139130; MGI: 95785; HomoloGene: 55628; GeneCards: GNB3; OMA:GNB3 - orthologs

Chr.Chromosome 12 (human)^[1]

End6,847,393 bp^[1]

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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)[1] Band 12p13.31 Start 6,839,954 bp[1] End 6,847,393 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F2|6 59.17 cM Start 124,811,203 bp[2] End 124,817,238 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 2784 14695 Ensembl ENSG00000111664 ENSMUSG00000023439 UniProt P16520 Q61011 RefSeq (mRNA) NM_001297571 NM_002075 NM_013530 RefSeq (protein) NP_001284500 NP_002066 NP_038558 Location (UCSC) Chr 12: 6.84 – 6.85 Mb Chr 6: 124.81 – 124.82 Mb PubMed search [3] [4]
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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.^[7]