Aliases for GNB2 Gene
External Ids for GNB2 Gene
Previous GeneCards Identifiers for GNB2 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. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]
GeneCards Summary for GNB2 Gene
GNB2 (G Protein Subunit Beta 2) is a Protein Coding gene. Diseases associated with GNB2 include Night Blindness, Congenital Stationary, Type 1H and Charcot-Marie-Tooth Disease, Dominant Intermediate F. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and ADP signalling through P2Y purinoceptor 12. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GNB4.
UniProtKB/Swiss-Prot Summary for GNB2 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'.