GNB3

GNB3
Identifiers
Aliases	GNB3 , CSNB1H, G protein subunit beta 3, HG2D
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 124,811,203 bp [2] End 124,817,238 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary retinal pigment epithelium right coronary artery ascending aorta stromal cell of endometrium left ventricle nucleus accumbens cingulate gyrus canal of the cervix left coronary artery Top expressed in pineal gland pituitary gland retinal pigment epithelium mirror superior cervical ganglion morula adrenal gland myocardium of ventricle thoracic ganglia corneal stroma 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]
Wikidata
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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]}

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. S2CID   21235423.
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. S2CID   26945864.
• 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 . PMC   8109857 . PMID   17341998. S2CID   10559655.
• 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. Bibcode:1990PNAS...87.2329L. 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. S2CID   10239855.
• 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. S2CID   22407752.
• 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.