GABRB2

GABRB2
Identifiers
Aliases	GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit, ICEE2, gamma-aminobutyric acid type A receptor subunit beta2
External IDs	OMIM: 600232 MGI: 95620 HomoloGene: 7327 GeneCards: GABRB2
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	161,549,044 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	42,629,028 bp[2]
RNA expression pattern
	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; • cell 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; • postsynaptic potential; • inhibitory synapse assembly;
	Sources:Amigo / QuickGO
Orthologs
	2561
	14401
	ENSG00000145864
	ENSMUSG00000007653
	P47870
	P63137
	NM_000813; NM_021911; NM_001371727
	NM_008070; NM_001347314; NM_001362646; NM_001362647; NM_001362649
	NP_000804; NP_068711; NP_001358656
	NP_001334243; NP_032096; NP_001349575; NP_001349576; NP_001349578
	Wikidata
View/Edit Human	View/Edit Mouse

Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.[5][6]

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.[6]

Clinical significance

Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.[7][8]

Interactions

GABRB2 has been shown to interact with TRAK2.[9]

References

GRCh38: Ensembl release 89: ENSG00000145864 - Ensembl, May 2017
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.
Russek SJ, Farb DH (October 1994). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform". Genomics. 23 (3): 528–533. doi:10.1006/geno.1994.1539. PMID 7851879.
"Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2".
Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A (November 2014). "A novel variant in GABRB2 associated with intellectual disability and epilepsy". American Journal of Medical Genetics. Part A. 164A (11): 2914–2921. doi:10.1002/ajmg.a.36714. PMC 4205182. PMID 25124326.
Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S (October 2016). "A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy". Journal of Medical Genetics. 54 (3): jmedgenet–2016–104083. doi:10.1136/jmedgenet-2016-104083. PMC 5384423. PMID 27789573.
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.

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. S2CID 84507461.
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. S2CID 13569188.
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. S2CID 53298392.
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 US 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145864 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000007653 - Ensembl, May 2017

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

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

[pmid7851879-5] Russek SJ, Farb DH (October 1994). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform". Genomics. 23 (3): 528–533. doi:10.1006/geno.1994.1539. PMID 7851879.

[entrez-6] "Entrez Gene: GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2".

[7] Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A (November 2014). "A novel variant in GABRB2 associated with intellectual disability and epilepsy". American Journal of Medical Genetics. Part A. 164A (11): 2914–2921. doi:10.1002/ajmg.a.36714. PMC 4205182. PMID 25124326.

[8] Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S (October 2016). "A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy". Journal of Medical Genetics. 54 (3): jmedgenet–2016–104083. doi:10.1136/jmedgenet-2016-104083. PMC 5384423. PMID 27789573.

[pmid12034717-9] 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.