GABRB2

GABRB2
Identifiers
Aliases	GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit, ICEE2, gamma-aminobutyric acid type A receptor subunit beta2, DEE92
External IDs	OMIM: 600232 MGI: 95620 HomoloGene: 7327 GeneCards: GABRB2
Gene location (Human) Chr. Chromosome 5 (human) Band 5q34 Start 161,288,429 bp End 161,549,044 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 A5|11 25.08 cM Start 42,310,584 bp End 42,519,855 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 endothelial cell postcentral gyrus middle temporal gyrus entorhinal cortex external globus pallidus superior frontal gyrus pons cerebellar cortex cerebellar hemisphere Top expressed in lateral geniculate nucleus medial geniculate nucleus medial dorsal nucleus globus pallidus cerebellar vermis lateral hypothalamus ventromedial nucleus mammillary body ventral tegmental area olfactory tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function inhibitory extracellular ligand-gated ion channel activity ion channel activity GABA receptor activity chloride channel activity extracellular ligand-gated ion channel activity GABA-A receptor activity transmembrane signaling receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GABA-gated chloride ion channel activity Cellular component integral component of membrane cytosol GABA-A receptor complex postsynaptic membrane membrane plasma membrane integral component of plasma membrane synapse chloride channel complex cell junction GABA receptor complex extracellular exosome cytoplasmic vesicle membrane cytoplasmic vesicle neuron projection GABA-ergic synapse integral component of postsynaptic specialization membrane Biological process gamma-aminobutyric acid signaling pathway negative regulation of neuron apoptotic process chemical synaptic transmission cochlea development regulation of neuron apoptotic process neuron development chloride transmembrane transport synaptic transmission, GABAergic sensory perception of sound ion transport inner ear receptor cell development chloride transport innervation negative regulation of neuron death cellular response to histamine transport signal transduction ion transmembrane transport regulation of membrane potential nervous system process regulation of postsynaptic membrane potential inhibitory synapse assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2561 14401 Ensembl ENSG00000145864 ENSMUSG00000007653 UniProt P47870 P63137 RefSeq (mRNA) NM_000813 NM_021911 NM_001371727 NM_008070 NM_001347314 NM_001362646 NM_001362647 NM_001362649 RefSeq (protein) NP_000804 NP_068711 NP_001358656 NP_001334243 NP_032096 NP_001349575 NP_001349576 NP_001349578 Location (UCSC) Chr 5: 161.29 – 161.55 Mb Chr 11: 42.31 – 42.52 Mb PubMed search
Wikidata
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Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.

Function

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.

Clinical significance

Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.

Interactions

GABRB2 has been shown to interact with TRAK2.

See also

• GABAA receptor

Further reading

• Moss SJ, Doherty CA, Huganir RL (July 1992). "Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor". The Journal of Biological Chemistry. 267 (20): 14470–14476. PMID 1321150.
• Kellenberger S, Malherbe P, Sigel E (December 1992). "Function of the alpha 1 beta 2 gamma 2S gamma-aminobutyric acid type A receptor is modulated by protein kinase C via multiple phosphorylation sites". The Journal of Biological Chemistry. 267 (36): 25660–25663. PMID 1334482.
• McKinley DD, Lennon DJ, Carter DB (January 1995). "Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor". Brain Research. Molecular Brain Research. 28 (1): 175–179. doi:10.1016/0169-328X(94)00228-7. PMID 7707873.
• Tögel M, Mossier B, Fuchs K, Sieghart W (April 1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". The Journal of Biological Chemistry. 269 (17): 12993–12998. PMID 8175718.
• Hadingham KL, Wingrove PB, Wafford KA, Bain C, Kemp JA, Palmer KJ, Wilson AW, Wilcox AS, Sikela JM, Ragan CI (December 1993). "Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors". Molecular Pharmacology. 44 (6): 1211–1218. PMID 8264558.
• Akbarian S, Huntsman MM, Kim JJ, Tafazzoli A, Potkin SG, Bunney WE, Jones EG (1996). "GABAA receptor subunit gene expression in human prefrontal cortex: comparison of schizophrenics and controls". Cerebral Cortex. 5 (6): 550–560. doi:10.1093/cercor/5.6.550. PMID 8590827.
• Longson D, Longson CM, Jones EG (April 1997). "Localization of CAM II kinase-alpha, GAD, GluR2 and GABA(A) receptor subunit mRNAs in the human entorhinal cortex". The European Journal of Neuroscience. 9 (4): 662–675. doi:10.1111/j.1460-9568.1997.tb01415.x. PMID 9153573.
• Russek SJ (February 1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–222. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
• Bonnert TP, McKernan RM, Farrar S, le Bourdellès B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ (August 1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proceedings of the National Academy of Sciences of the United States of America. 96 (17): 9891–9896. doi:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790.
• Brooks-Kayal AR, Shumate MD, Jin H, Lin DD, Rikhter TY, Holloway KL, Coulter DA (October 1999). "Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells". The Journal of Neuroscience. 19 (19): 8312–8318. doi:10.1523/JNEUROSCI.19-19-08312.1999. PMC 6783026. PMID 10493732.
• Buckley ST, Eckert AL, Dodd PR (September 2000). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex". Annals of the New York Academy of Sciences. 914 (1): 58–64. Bibcode:2000NYASA.914...58B. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308.
• Salim K, Fenton T, Bacha J, Urien-Rodriguez H, Bonnert T, Skynner HA, Watts E, Kerby J, Heald A, Beer M, McAllister G, Guest PC (May 2002). "Oligomerization of G-protein-coupled receptors shown by selective co-immunoprecipitation". The Journal of Biological Chemistry. 277 (18): 15482–15485. doi:10.1074/jbc.M201539200. PMID 11854302.
• Beck M, Brickley K, Wilkinson HL, Sharma S, Smith M, Chazot PL, Pollard S, Stephenson FA (August 2002). "Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1". The Journal of Biological Chemistry. 277 (33): 30079–30090. doi:10.1074/jbc.M200438200. PMID 12034717.
• Iyer SP, Akimoto Y, Hart GW (February 2003). "Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase". The Journal of Biological Chemistry. 278 (7): 5399–5409. doi:10.1074/jbc.M209384200. PMID 12435728.
• Wang J, Liu S, Haditsch U, Tu W, Cochrane K, Ahmadian G, Tran L, Paw J, Wang Y, Mansuy I, Salter MM, Lu YM (February 2003). "Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses". The Journal of Neuroscience. 23 (3): 826–836. doi:10.1523/JNEUROSCI.23-03-00826.2003. PMC 6741901. PMID 12574411.
• Pirker S, Schwarzer C, Czech T, Baumgartner C, Pockberger H, Maier H, Hauer B, Sieghart W, Furtinger S, Sperk G (August 2003). "Increased expression of GABA(A) receptor beta-subunits in the hippocampus of patients with temporal lobe epilepsy". Journal of Neuropathology and Experimental Neurology. 62 (8): 820–834. doi:10.1093/jnen/62.8.820. PMID 14503638.
• Mercik K, Pytel M, Mozrzymas JW (December 2003). "Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics". Neuroscience Letters. 352 (3): 195–198. doi:10.1016/j.neulet.2003.08.060. PMID 14625018.
• Lo WS, Lau CF, Xuan Z, Chan CF, Feng GY, He L, Cao ZC, Liu H, Luan QM, Xue H (June 2004). "Association of SNPs and haplotypes in GABAA receptor beta2 gene with schizophrenia". Molecular Psychiatry. 9 (6): 603–608. doi:10.1038/sj.mp.4001461. PMID 14699426.

External links

• GABRB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: P47870 (Gamma-aminobutyric acid receptor subunit beta-2) at the PDBe-KB.

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