GABRE

GABRE
Identifiers
Aliases	GABRE, gamma-aminobutyric acid type A receptor epsilon subunit, gamma-aminobutyric acid type A receptor subunit epsilon
External IDs	OMIM: 300093; HomoloGene: 68425; GeneCards: GABRE; OMA:GABRE - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	151,974,680 bp
RNA expression pattern
	Top expressed in
	vagina; ; subcutaneous adipose tissue; ; apex of heart; ; ectocervix; ; canal of the cervix; ; skin of abdomen; ; minor salivary glands; ; skin of leg; ; popliteal artery; ; tibial arteries;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	chloride channel activity; extracellular ligand-gated ion channel activity; GABA-gated chloride ion channel activity; GABA-A receptor activity; ion channel activity; transmembrane signaling receptor activity; inhibitory extracellular ligand-gated ion channel activity; benzodiazepine receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;
Cellular component	integral component of membrane; cell junction; postsynaptic membrane; plasma membrane; synapse; membrane; chloride channel complex; GABA-A receptor complex; integral component of plasma membrane; dendrite membrane; neuron projection; postsynapse;
Biological process	ion transmembrane transport; chloride transport; chloride transmembrane transport; ion transport; negative regulation of chloride transport; signal transduction; gamma-aminobutyric acid signaling pathway; chemical synaptic transmission; regulation of membrane potential; nervous system process; synaptic transmission, GABAergic; regulation of postsynaptic membrane potential;
	Sources:Amigo / QuickGO
Orthologs
	2564
	n/a
	ENSG00000102287
	n/a
	P78334
	n/a
	NM_004961; NM_021984; NM_021987; NM_021990
	n/a
	NP_004952
	n/a
	Wikidata
View/Edit Human

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene.^[3]^[4]^[5]

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified.^[5]

Brainstem expression of ε subunit-containing GABA_A receptors is upregulated during pregnancy, particularly in the ventral respiratory group.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102287 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Davies PA, Hanna MC, Hales TG, Kirkness EF (Mar 1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature. 385 (6619): 820–823. Bibcode:1997Natur.385..820D. doi:10.1038/385820a0. PMID 9039914. S2CID 4241881.
^ Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF (Apr 1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system" (PDF). J Neurochem. 68 (4): 1382–1389. doi:10.1046/j.1471-4159.1997.68041382.x. PMID 9084408.
^ ^a ^b "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".
^ Hengen KB, Nelson NR, Stang KM, Johnson SM, Crader SM, Watters JJ, Mitchell GS, Behan M (2012). "Increased GABA(A) receptor ε-subunit expression on ventral respiratory column neurons protects breathing during pregnancy". PLOS ONE. 7 (1): e30608. Bibcode:2012PLoSO...730608H. doi:10.1371/journal.pone.0030608. PMC 3269439. PMID 22303446.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102287 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9039914-3] Davies PA, Hanna MC, Hales TG, Kirkness EF (Mar 1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature. 385 (6619): 820–823. Bibcode:1997Natur.385..820D. doi:10.1038/385820a0. PMID 9039914. S2CID 4241881.

[pmid9084408-4] Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF (Apr 1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system" (PDF). J Neurochem. 68 (4): 1382–1389. doi:10.1046/j.1471-4159.1997.68041382.x. PMID 9084408.

[entrez-5] "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".

[6] Hengen KB, Nelson NR, Stang KM, Johnson SM, Crader SM, Watters JJ, Mitchell GS, Behan M (2012). "Increased GABA(A) receptor ε-subunit expression on ventral respiratory column neurons protects breathing during pregnancy". PLOS ONE. 7 (1): e30608. Bibcode:2012PLoSO...730608H. doi:10.1371/journal.pone.0030608. PMC 3269439. PMID 22303446.

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