DISEASES

Disease-gene associations mined from literature

Literature associating GABRG2 and childhood absence epilepsy

GABRG2 [ENSP00000410732]

Gamma-aminobutyric acid receptor subunit gamma-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain . Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel . The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity . The alpha2/beta2/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). ECO:0000269|PubMed:23909897, ECO:0000269|PubMed:2538761, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:27864268,; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub- subfamily.

Synonyms:  GABRG2,  GABRG2p,  hGABRG2,  A0A1W2PP56,  A0A1W2PPN5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM