Guanine Nucleotide-Binding Protein, Beta-3

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OMIM Number

139130

NCBI Gene ID

2784

Uniprot ID

P16520

Length

6,472 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

Molecular Mass

37221 Da

Amino Acid Count

340

Genomic Location

chr12:6,840,921-6,847,392

Gene Map Locus
12p13.31

Description

 

Heterotrimeric guanine nucleotide-binding proteins (G proteins) integrate signals between receptors and effector proteins. They are composed of an alpha, a beta, and a gamma subunit. The product of the human guanine nucleotide-binding protein beta-3 subunit gene is a modulator or transducer in various transmembrane signaling systems and integrates signals between receptors and effector proteins. To date, the human G-protein beta 3 subunit (GNB3) gene and some of its variants represent some of the best examples of genetic influences that are involved in the determination of hypertension and obesity, which make it a sensible candidate gene for type 2 diabetes.

Molecular Genetics

The heterotrimeric guanine nucleotide-binding protein subunits are encoded by families of related genes. The human guanine nucleotide-binding protein beta-3 subunit gene encodes a 34 kd beta subunit. Beta subunits are expressed in all tissues and 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.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002075.4:c.1017G>ALebanonPathogenicPathogenicNight Blindness, Congenital Stationary, Type 1HNG_009100.2:g.11682G>A; NC_000012.12:g.6846892G>A; NM_002075.4:c.1017G>A; NP_002066.1:p.Trp339Ter879253773242984
NM_002075.4:c.170_172delLebanonPathogenicPathogenicNight Blindness, Congenital Stationary, Type 1HNG_009100.2:g.7833_7835del; NC_000012.12:g.6843043_6843045del; NM_002075.4:c.170_172del; NP_002066.1:p.Lys57del879253774242985
NM_002075.4:c.825=United Arab EmiratesNC_000012.12:g.6845711=AssociationNG_009100.2:g.10501=; NM_002075.4:c.825=; NP_002066.1:p.Ser275=5443
NM_002075.4:c.825C>TUnited Arab EmiratesNC_000012.12:g.6845711C>TBenignAssociationType 2 Diabetes MellitusNG_009100.2:g.10501C>T; NM_002075.4:c.825C>T; NP_002066.1:p.Ser275=5443226004
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