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]

GNB3
Identifiers
Aliases	GNB3, CSNB1H, G protein subunit beta 3
External IDs	OMIM: 139130 MGI: 95785 HomoloGene: 55628 GeneCards: GNB3
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 124,834,240 bp[2] End 124,840,275 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GTPase binding • spectrin binding • GO:0001948 protein binding • signal transducer activity • GTPase activity Cellular component • cell body • neuron projection • cell 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: 124.83 – 124.84 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000111664 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023439 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Siffert W (Dec 2001). "Molecular genetics of G proteins and atherosclerosis risk". Basic Res Cardiol. 96 (6): 606–11. doi:10.1007/s003950170012. PMID 11770079.
6. Weinstein LS, Chen M, Xie T, Liu J (May 2006). "Genetic diseases associated with heterotrimeric G proteins". Trends Pharmacol Sci. 27 (5): 260–6. doi:10.1016/j.tips.2006.03.005. PMID 16600389.
7. "Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3".

Further reading

• Wedegaertner PB, Wilson PT, Bourne HR (1995). "Lipid modifications of trimeric G proteins". J. Biol. Chem. 270 (2): 503–6. doi:10.1074/jbc.270.2.503. PMID 7822269.
• Downes GB, Gautam N (2000). "The G protein subunit gene families". Genomics. 62 (3): 544–52. doi:10.1006/geno.1999.5992. PMID 10644457.
• Sartori M, Parotto E, Ceolotto G, et al. (2005). "[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk]". Ann. Ital. Med. Int. 19 (4): 240–8. PMID 15678704.
• Zhu H, Wang X, Lu Y, et al. (2006). "Update on G-protein polymorphisms in hypertension". Curr. Hypertens. Rep. 8 (1): 23–9. doi:10.1007/s11906-006-0037-4. PMID 16600156.
• Weder AB (2007). "Genetics and hypertension" (PDF). Journal of Clinical Hypertension (Greenwich, Conn.). 9 (3): 217–23. doi:10.1111/j.1524-6175.2007.06587.x. hdl:2027.42/75304. PMID 17341998.
• Levine MA, Modi WS, O'Brien SJ (1991). "Chromosomal localization of the genes encoding two forms of the G protein beta polypeptide, beta 1 and beta 3, in man". Genomics. 8 (2): 380–6. doi:10.1016/0888-7543(90)90296-7. PMID 1979057.
• Levine MA, Smallwood PM, Moen PT, et al. (1990). "Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide". Proc. Natl. Acad. Sci. U.S.A. 87 (6): 2329–33. doi:10.1073/pnas.87.6.2329. PMC 53680. PMID 2107550.
• Garcia-Higuera I, Thomas TC, Yi F, Neer EJ (1996). "Intersubunit surfaces in G protein alpha beta gamma heterotrimers. Analysis by cross-linking and mutagenesis of beta gamma". J. Biol. Chem. 271 (1): 528–35. doi:10.1074/jbc.271.1.528. PMID 8550614.
• Yan K, Kalyanaraman V, Gautam N (1996). "Differential ability to form the G protein betagamma complex among members of the beta and gamma subunit families". J. Biol. Chem. 271 (12): 7141–6. doi:10.1074/jbc.271.12.7141. PMID 8636150.
• Ansari-Lari MA, Muzny DM, Lu J, et al. (1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13". Genome Res. 6 (4): 314–26. doi:10.1101/gr.6.4.314. PMID 8723724.
• Ansari-Lari MA, Shen Y, Muzny DM, et al. (1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination". Genome Res. 7 (3): 268–80. doi:10.1101/gr.7.3.268. PMID 9074930.
• Siffert W, Rosskopf D, Siffert G, et al. (1998). "Association of a human G-protein beta3 subunit variant with hypertension". Nat. Genet. 18 (1): 45–8. doi:10.1038/ng0198-45. PMID 9425898.
• Kageyama K, Murakami T, Iizuka K, et al. (1999). "Translocation of G-protein beta3 subunit from the cytosol pool to the membrane pool by beta1-adrenergic receptor stimulation in perfused rat hearts". Biochem. Pharmacol. 58 (9): 1497–500. doi:10.1016/S0006-2952(99)00230-0. PMID 10513993.
• Rosskopf D, Busch S, Manthey I, Siffert W (2000). "G protein beta 3 gene: structure, promoter, and additional polymorphisms". Hypertension. 36 (1): 33–41. doi:10.1161/01.hyp.36.1.33. PMID 10904009.
• Obineche EN, Frossard PM, Bokhari AM (2002). "An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs". Hypertens. Res. 24 (6): 635–9. doi:10.1291/hypres.24.635. PMID 11768721.
• Tabara Y, Kohara K, Miki T (2002). "Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension". J. Hypertens. 20 (4): 651–6. doi:10.1097/00004872-200204000-00022. PMID 11910300.
• Serretti A, Lorenzi C, Lilli R, et al. (2002). "Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants". Am. J. Med. Genet. 114 (4): 370–9. doi:10.1002/ajmg.10357. PMID 11992559.
• Shlyakhto EV, Shwartz EI, Nefedova YB, et al. (2002). "Lack of association of G-protein subunit gene C825T polymorphism with left ventricular hypertrophy in essential hypertension". Med. Sci. Monit. 8 (5): CR337–40. PMID 12011775.