GABRB2

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.

Full Name

gamma-aminobutyric acid type A receptor beta 2 subunit

Function

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:8264558, PubMed:19763268, PubMed:27789573, PubMed:29950725).

Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750).

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 alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750).

Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).

Biological Process

Cellular response to histamine Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Chloride transmembrane transport Source: UniProtKB
Cochlea development Source: Ensembl
Gamma-aminobutyric acid signaling pathway Source: UniProtKB
Inhibitory synapse assembly Source: UniProtKB
Inner ear receptor cell development Source: Ensembl
Innervation Source: Ensembl
Ion transmembrane transport Source: GO_Central
Negative regulation of neuron apoptotic process Source: Ensembl
Nervous system process Source: GO_Central
Regulation of membrane potential Source: GO_Central
Sensory perception of sound Source: Ensembl
Signal transduction Source: GO_Central
Synaptic transmission, GABAergic Source: BHF-UCL

Cellular Location

Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane

Involvement in disease

Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2):
A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years.

PTM

Glycosylated.