GABRB2

GABRB2
Identifiers
AliasesGABRB2, gamma-aminobutyric acid type A receptor beta2 subunit, ICEE2
External IDsOMIM: 600232 MGI: 95620 HomoloGene: 7327 GeneCards: GABRB2
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q34Start161,288,429 bp[1]
End161,549,044 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2561

14401

Ensembl

ENSG00000145864

ENSMUSG00000007653

UniProt

P47870

P63137

RefSeq (mRNA)

NM_000813
NM_021911

NM_008070
NM_001347314
NM_001362646
NM_001362647
NM_001362649

RefSeq (protein)

NP_000804
NP_068711

NP_001334243
NP_032096

Location (UCSC)Chr 5: 161.29 – 161.55 MbChr 11: 42.42 – 42.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000145864 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000007653 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  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): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
  6. 1 2 "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): 2914–21. 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: jmedgenet–2016–104083. doi:10.1136/jmedgenet-2016-104083. PMC 5384423. PMID 27789573.
  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): 30079–90. doi:10.1074/jbc.M200438200. PMID 12034717.

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): 14470–6. 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): 25660–3. 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): 175–9. 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): 12993–8. 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): 1211–8. 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): 550–60. 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): 662–75. 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): 213–22. 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): 9891–6. 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): 8312–8. 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: 58–64. 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): 15482–5. 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): 30079–90. 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): 5399–409. 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): 826–36. 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): 820–34. 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): 195–8. 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): 603–8. doi:10.1038/sj.mp.4001461. PMID 14699426. 

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