GNB3

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. [provided by RefSeq]

Full Name

guanine nucleotide binding protein (G protein), beta polypeptide 3

Function

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Biological Process

Cell volume homeostasis Source: ARUK-UCL
G protein-coupled receptor signaling pathway Source: GO_Central
Regulation of blood pressure Source: ProtInc
Regulation of cholesterol metabolic process Source: ARUK-UCL
Regulation of fat cell differentiation Source: ARUK-UCL
Regulation of gene expression Source: ARUK-UCL
Regulation of glucose metabolic process Source: ARUK-UCL
Regulation of hormone metabolic process Source: ARUK-UCL
Regulation of phospholipid metabolic process Source: ARUK-UCL
Regulation of triglyceride metabolic process Source: ARUK-UCL

Cellular Location

Cytosol; Extracellular exosome; Heterotrimeric G-protein complex; Cell body; Cytoplasm; Dendrite

Involvement in disease

Night blindness, congenital stationary, 1H (CSNB1H):
A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.