GNB5
Description
The GNB5 (G protein subunit beta 5) is a protein-coding gene located on chromosome 15.
GNB5, encoded by the GNB5 gene, is a subunit of heterotrimeric guanine nucleotide-binding proteins (G proteins) that mediate signal transduction between receptors and effector proteins. GNB5 regulates the activity of alpha subunits within these G proteins, influencing signal transduction receptors and effectors. It is particularly involved in the control of complex neuronal G protein signaling pathways by differentially controlling RGS protein stability and membrane anchor binding. GNB5 interacts with several proteins, including GNG7, GNG13, RGS7, and RGS9, highlighting its role in complex signaling networks within the cell.
GNB5 enhances the activity of GTPase-activating proteins (GAPs), specifically RGS7 and RGS9, which are involved in terminating signaling pathways initiated by G protein-coupled receptors (GPCRs). GNB5 accelerates GTP hydrolysis on G-alpha subunits, leading to their inactivation. This process is crucial for regulating mood and cognition, as evidenced by GNB5's role in increasing RGS7's GAP activity. Additionally, GNB5 contributes to deactivating G protein signaling initiated by D(2) dopamine receptors by increasing RGS9's GAP activity. It is believed that GNB5 plays a significant role in neuronal signaling, particularly in the parasympathetic control of heart rate.
GNB5 is also known as GB5, HG2E, IDDCA, LADCI, LDMLS1, LDMLS2, gbeta5.
Associated Diseases
- GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
- Intellectual developmental disorder with cardiac arrhythmia
