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.[5][6] 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.[7] 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 [8][9][10] GABRB2 has been associated with a number of neuropsychiatric disorders, and found to display altered expression in cancer.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000145864 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007653 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ McKernan RM, Whiting PJ (April 1996). "Which GABAA-receptor subtypes really occur in the brain?". Trends in Neurosciences. 19 (4): 139–43. doi:10.1016/s0166-2236(96)80023-3. PMID 8658597. S2CID 4970577.
- ^ McCracken ML, Borghese CM, Trudell JR, Harris RA (December 2010). "A transmembrane amino acid in the GABAA receptor β2 subunit critical for the actions of alcohols and anesthetics". The Journal of Pharmacology and Experimental Therapeutics. 335 (3): 600–6. doi:10.1124/jpet.110.170472. PMC 2993559. PMID 20826568.
- ^ Cite error: The named reference
alternative splicingwas invoked but never defined (see the help page). - ^ Cite error: The named reference
positive selectionwas invoked but never defined (see the help page). - ^ Pun FW, Zhao C, Lo WS, Ng SK, Tsang SY, Nimgaonkar V, et al. (May 2011). "Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor β(2) subunit". Molecular Psychiatry. 16 (5): 557–68. doi:10.1038/mp.2010.47. PMID 20404824. S2CID 11923808.
- ^ Zhao C, Wang F, Pun FW, Mei L, Ren L, Yu Z, et al. (February 2012). "Epigenetic regulation on GABRB2 isoforms expression: developmental variations and disruptions in psychotic disorders". Schizophrenia Research. 134 (2–3): 260–6. doi:10.1016/j.schres.2011.11.029. PMID 22206711. S2CID 20093711.