GNB3

From Wikipedia, the free encyclopedia


Guanine nucleotide binding protein (G protein), beta polypeptide 3
Identifiers
Symbol(s) GNB3;
External IDs OMIM: 139130 MGI: 95785 HomoloGene: 55628
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2784 14695
Ensembl ENSG00000111664 ENSMUSG00000023439
Uniprot P16520 Q54AE3
Refseq NM_002075 (mRNA)
NP_002066 (protein)		 NM_013530 (mRNA)
NP_038558 (protein)
Location Chr 12: 6.82 - 6.83 Mb Chr 6: 124.8 - 124.81 Mb
Pubmed search [1] [2]

Guanine nucleotide binding protein (G protein), beta polypeptide 3, also known as GNB3, is a human 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.[1]

[edit] References

  1. ^ Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3.

[edit] Further reading

  • Wedegaertner PB, Wilson PT, Bourne HR (1995). "Lipid modifications of trimeric G proteins.". J. Biol. Chem. 270 (2): 503–6. 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. PMID 16600156. 
  • Weder AB (2007). "Genetics and hypertension.". Journal of clinical hypertension (Greenwich, Conn.) 9 (3): 217–23. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 
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