GABRA4

GABRA4
Identifiers
Aliases	GABRA4, gamma-aminobutyric acid type A receptor alpha4 subunit, gamma-aminobutyric acid type A receptor subunit alpha4
External IDs	OMIM: 137141; MGI: 95616; HomoloGene: 631; GeneCards: GABRA4; OMA:GABRA4 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	46,993,581 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	71,658,308 bp
RNA expression pattern
	Top expressed in
	postcentral gyrus; ; entorhinal cortex; ; buccal mucosa cell; ; superior frontal gyrus; ; middle temporal gyrus; ; Brodmann area 23; ; lateral nuclear group of thalamus; ; nucleus accumbens; ; endothelial cell; ; caudate nucleus;
	Top expressed in
	lateral geniculate nucleus; ; medial dorsal nucleus; ; medial geniculate nucleus; ; olfactory tubercle; ; primary motor cortex; ; cingulate gyrus; ; piriform cortex; ; anterior amygdaloid area; ; nucleus accumbens; ; globus pallidus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ion channel activity; benzodiazepine receptor activity; chloride channel activity; extracellular ligand-gated ion channel activity; GABA-A receptor activity; transmembrane signaling receptor activity; inhibitory extracellular ligand-gated ion channel activity; GABA-gated chloride ion channel activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;
Cellular component	integral component of membrane; GABA-A receptor complex; postsynaptic membrane; membrane; synapse; integral component of plasma membrane; chloride channel complex; cell junction; plasma membrane; GABA-ergic synapse; integral component of postsynaptic specialization membrane; dendrite membrane; neuron projection; postsynapse;
Biological process	gamma-aminobutyric acid signaling pathway; chloride transmembrane transport; ion transport; regulation of response to drug; central nervous system development; chloride transport; ion transmembrane transport; signal transduction; chemical synaptic transmission; regulation of membrane potential; nervous system process; synaptic transmission, GABAergic; regulation of postsynaptic membrane potential;
	Sources:Amigo / QuickGO
Orthologs
	2557
	14397
	ENSG00000109158
	ENSMUSG00000029211
	P48169
	Q9D6F4
	NM_000809; NM_001204266; NM_001204267
	NM_010251
	NP_000800; NP_001191195; NP_001191196
NP_034381; NP_001345970; NP_001345972; NP_001345973; NP_001345974;
	NP_001345975; NP_001345976; NP_001345977; NP_001345979
	Wikidata
View/Edit Human	View/Edit Mouse

Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified.

A research study compared wild-type to knockout GABRA4 gene in mice. It was determined that the elimination of the GABRA4 gene displayed characteristics that are associated with autism spectrum disorder (ASD). These include increased spatial cognition and decreased social engagement, unlike the wild-type mice. A hippocampal transcriptome analysis was profiled on knockout mice, showing the increased activity of N-methyl-D-aspartate receptors. This plays a role in consciousness and learning resulting in those characteristics.