Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a
protein that in humans is encoded by the GNB3gene.[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]
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.
PMID15678704.
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.
PMID9425898.
S2CID10239855.
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.
PMID10513993.
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.
PMID11910300.
S2CID22407752.
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.
PMID11992559.
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.
PMID12011775.
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a
protein that in humans is encoded by the GNB3gene.[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]
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.
PMID15678704.
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.
PMID9425898.
S2CID10239855.
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.
PMID10513993.
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.
PMID11910300.
S2CID22407752.
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.
PMID11992559.
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.
PMID12011775.