GABRB2

GABRB2
Identifiers
Aliases	GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit, ICEE2, gamma-aminobutyric acid type A receptor subunit beta2, DEE92
External IDs	OMIM: 600232; MGI: 95620; HomoloGene: 7327; GeneCards: GABRB2; OMA:GABRB2 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	161,549,044 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	42,519,855 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; endothelial cell; ; lateral nuclear group of thalamus; ; postcentral gyrus; ; middle temporal gyrus; ; entorhinal cortex; ; buccal mucosa cell; ; external globus pallidus; ; superior frontal gyrus; ; primary visual cortex;
	Top expressed in
	lateral geniculate nucleus; ; medial geniculate nucleus; ; medial dorsal nucleus; ; globus pallidus; ; cerebellar vermis; ; lateral septal nucleus; ; lobe of cerebellum; ; lateral hypothalamus; ; anterior amygdaloid area; ; ventromedial nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	inhibitory extracellular ligand-gated ion channel activity; ion channel activity; GABA receptor activity; chloride channel activity; extracellular ligand-gated ion channel activity; GABA-A receptor activity; transmembrane signaling receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; GABA-gated chloride ion channel activity;
Cellular component	integral component of membrane; cytosol; GABA-A receptor complex; postsynaptic membrane; membrane; plasma membrane; integral component of plasma membrane; synapse; chloride channel complex; cell junction; GABA receptor complex; extracellular exosome; cytoplasmic vesicle membrane; cytoplasmic vesicle; neuron projection; GABA-ergic synapse; integral component of postsynaptic specialization membrane;
Biological process	gamma-aminobutyric acid signaling pathway; negative regulation of neuron apoptotic process; chemical synaptic transmission; cochlea development; regulation of neuron apoptotic process; neuron development; chloride transmembrane transport; synaptic transmission, GABAergic; hearing; ion transport; inner ear receptor cell development; chloride transport; innervation; negative regulation of neuron death; cellular response to histamine; transport; signal transduction; ion transmembrane transport; regulation of membrane potential; nervous system process; regulation of postsynaptic membrane potential; inhibitory synapse assembly;
	Sources:Amigo / QuickGO
Orthologs
	2561
	14401
	ENSG00000145864
	ENSMUSG00000007653
	P47870
	P63137
	NM_000813; NM_021911; NM_001371727
	NM_008070; NM_001347314; NM_001362646; NM_001362647; NM_001362649
	NP_000804; NP_068711; NP_001358656
	NP_001334243; NP_032096; NP_001349575; NP_001349576; NP_001349578
	Wikidata
View/Edit Human	View/Edit Mouse

The GABAA beta-2 subunit is a protein that in humans is encoded by the GABRB2 gene. It combines with other subunits to form the ionotropic GABAA receptors. GABA (γ-aminobutyric acid) system is the major inhibitory system in the brain, and its dominant GABAA receptor subtype is composed of α1, β2, and γ2 subunits with the stoichiometry of 2:2:1, which accounts for 43% of all GABAA receptors. Alternative splicing of the GABRB2 gene leads at least to four isoforms, viz. β2-long (β2L) and β2-short (β2S, β2S1, and β2S2). Alternatively spliced variants displayed similar but non-identical electrophysiological properties. GABRB2 is subjected to positive selection and known to be both an alternative splicing and a recombination hotspot; it is regulated via epigenetic regulation including imprinting and gene and promoter methylation GABRB2 has been associated with a number of neuropsychiatric disorders, and found to display altered expression in cancer.