DISEASES

Disease-gene associations mined from literature

Literature associating GABBR2 and hypertrophic cardiomyopathy 1

GABBR2 [ENSP00000259455]

Gamma-aminobutyric acid type B receptor subunit 2; Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long- term potentiation, slow wave sleep, muscle relaxation and antinociception (Probable).

Synonyms:  GABBR2,  GABBR2p,  hGABBR2,  H9NIL8,  O75899 ...

Linkouts:  STRING  Pharos  UniProt  OMIM