Aliases for GNB3 Gene
External Ids for GNB3 Gene
Previous GeneCards Identifiers for GNB3 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 which belongs to the WD repeat G protein beta family. 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. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
GeneCards Summary for GNB3 Gene
GNB3 (G Protein Subunit Beta 3) is a Protein Coding gene. Diseases associated with GNB3 include Night Blindness, Congenital Stationary, Type 1H and Hypertension, Essential. Among its related pathways are Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include GTPase activity and spectrin binding. An important paralog of this gene is GNB1.
UniProtKB/Swiss-Prot Summary for GNB3 Gene
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.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.