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)1 Band 4p12 Start 46,918,900 bp1 End 46,993,581 bp1
Gene location (Mouse) Chr. Chromosome 5 (mouse)2 Band 5|5 C3.1-C3.2 Start 71,569,749 bp2 End 71,658,308 bp2
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 2557 14397 Ensembl ENSG00000109158 ENSMUSG00000029211 UniProt P48169 Q9D6F4 RefSeq (mRNA) NM_000809 NM_001204266 NM_001204267 NM_010251 RefSeq (protein) NP_000800 NP_001191195 NP_001191196 NP_034381 NP_001345970 NP_001345972 NP_001345973 NP_001345974 NP_001345975 NP_001345976 NP_001345977 NP_001345979 Location (UCSC) Chr 4: 46.92 – 46.99 Mb Chr 5: 71.57 – 71.66 Mb PubMed search 3 4
Wikidata
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Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.⁵⁶

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.⁶

A study in mice compared wild-type animals with those lacking the Gabra4 gene. Gabra4 knockout mice exhibited behavioral alterations relative to wild-type controls, including enhanced performance in spatial learning tasks and reduced social interaction, features that have been described as relevant to autism spectrum disorder–associated phenotypes in animal models. Transcriptomic analysis of hippocampal tissue from knockout mice identified altered gene expression consistent with increased activity of N-methyl-D-aspartate (NMDA) receptor–related signaling pathways, which are involved in synaptic plasticity, learning, and neuronal excitability.⁷