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) Band 4p12 Start 46,918,900 bp End 46,993,581 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 C3.1-C3.2 Start 71,569,749 bp End 71,658,308 bp
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
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.

See also

• GABA_A receptor

Further reading

• Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–12998. doi:10.1016/S0021-9258(18)99974-6. PMID 8175718.
• Yang W, Drewe JA, Lan NC (1996). "Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site". Eur. J. Pharmacol. 291 (3): 319–325. doi:10.1016/0922-4106(95)90072-1. PMID 8719416.
• Kumar R, Lumsden A, Ciclitira PJ, et al. (2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155–1167. doi:10.1006/jmbi.2000.3927. PMID 10903861.
• Kumar S, Sieghart W, Morrow AL (2002). "Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption". J. Neurochem. 82 (1): 110–117. doi:10.1046/j.1471-4159.2002.00943.x. PMID 12091471. S2CID 82745932.
• Mu W, Cheng Q, Yang J, Burt DR (2002). "Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA". Brain Res. Bull. 58 (5): 447–454. doi:10.1016/S0361-9230(02)00816-X. PMID 12242096. S2CID 140209801.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Ma DQ, Whitehead PL, Menold MM, et al. (2006). "Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism". Am. J. Hum. Genet. 77 (3): 377–388. doi:10.1086/433195. PMC 1226204. PMID 16080114.
• Collins AL, Ma D, Whitehead PL, et al. (2007). "Investigation of autism and GABA receptor subunit genes in multiple ethnic groups". Neurogenetics. 7 (3): 167–174. doi:10.1007/s10048-006-0045-1. PMC 1513515. PMID 16770606.
• Lagrange AH, Botzolakis EJ, Macdonald RL (2007). "Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA". J. Physiol. 578 (Pt 3): 655–676. doi:10.1113/jphysiol.2006.122135. PMC 2151343. PMID 17124266.

External links

• GABRA4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.