GLRB

Summary

Gene Symbol: GLRB
Description: glycine receptor beta
Alias: HKPX2, glycine receptor subunit beta, glycine receptor 58 kDa subunit, glycine receptor, beta subunit
Species: human
Products:     GLRB

Top Publications

  1. Shan Q, Han L, Lynch J. ? Subunit M2-M3 loop conformational changes are uncoupled from ?1 ? glycine receptor channel gating: implications for human hereditary hyperekplexia. PLoS ONE. 2011;6:e28105 pubmed publisher
    ..Our study provides a possible explanation of why hereditary hyperekplexia-causing mutations that modify ?1 ? GlyR channel function are almost exclusively located in the ?1 to the exclusion of the ? subunit. ..
  2. Rees M, Lewis T, Kwok J, Mortier G, Govaert P, Snell R, et al. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet. 2002;11:853-60 pubmed
    ..Mutations in the beta-subunit of GlyR (glrb) occur in a murine model of hyperekplexia (spastic), but have not been detected in human hyperekplexia...
  3. Specht C, Grünewald N, Pascual O, Rostgaard N, Schwarz G, Triller A. Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C. EMBO J. 2011;30:3842-53 pubmed publisher
    ..We propose that the regulation of GlyR dynamics by PKC thus contributes to the plasticity of inhibitory synapses and may be involved in maladaptive forms of synaptic plasticity. ..
  4. Meyer G, Kirsch J, Betz H, Langosch D. Identification of a gephyrin binding motif on the glycine receptor beta subunit. Neuron. 1995;15:563-72 pubmed
    ..These results indicate that beta subunit expression is essential for the formation of a postsynaptic GlyR matrix. ..
  5. Al Owain M, Colak D, Al Bakheet A, Al Hashmi N, Shuaib T, Al Hemidan A, et al. Novel mutation in GLRB in a large family with hereditary hyperekplexia. Clin Genet. 2012;81:479-84 pubmed publisher
    ..Mutations in five genes have been reported to cause the disease. However, only single mutation in GLRB, the gene encoding beta-subunit of the glycine receptor, in a singleton patient with HH has been found to date...
  6. Milani N, Mülhardt C, Weber R, Lichter P, Kioschis P, Poustka A, et al. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. Genomics. 1998;50:341-5 pubmed
    ..receptor of the human CNS comprises ligand-binding alpha 1 and structural beta subunits encoded by the GLRA1 and GLRB genes, respectively...
  7. Grudzinska J, Schemm R, Haeger S, Nicke A, Schmalzing G, Betz H, et al. The beta subunit determines the ligand binding properties of synaptic glycine receptors. Neuron. 2005;45:727-39 pubmed
    ..Because the beta subunit anchors GlyRs at synaptic sites, our results have important implications for the biosynthesis, clustering, and pharmacology of synaptic GlyRs. ..
  8. Loomis W, den Hartigh A, Cookson B, Fink S. Diverse small molecules prevent macrophage lysis during pyroptosis. Cell Death Dis. 2019;10:326 pubmed publisher
    ..However, using genetically deficient Glrb mutant macrophages, we found that the glycine receptor is not required for pyroptotic cytoprotection...
  9. Yim P, Gallos G, Xu D, Zhang Y, Emala C. Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth muscle. FASEB J. 2011;25:1706-17 pubmed publisher
    ..Messenger RNA for ? (GLRB), ?1 (GLRA1), ?2 (GLRA2), and ?4 (GLRA4) subunits were found in human (Homo sapiens) and guinea pig (Cavia ..

More Information

Publications44

  1. Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, et al. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. Dev Med Child Neurol. 2015;57:372-7 pubmed publisher
    ..Mutations in the GLRA1 and GLRB genes were identified in 16 patients and one patient respectively...
  2. Winkelmann A, You X, Grünewald N, Häussler U, Krestel H, Haas C, et al. Identification of a new genomic hot spot of evolutionary diversification of protein function. PLoS ONE. 2015;10:e0125413 pubmed publisher
    ..Here, we identify a species-specific thymine-to-guanine sequence variation in the Glrb gene which gives rise to species-specific splice donor sites in the Glrb genes of mouse and bushbaby...
  3. Gao C, Tabb K, Dimitrov L, Taylor K, Wang N, Guo X, et al. Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS). Sci Rep. 2018;8:5603 pubmed publisher
    ..11?×?10-08). rs189547099 is an intronic SNP in FNIP2 and SNP chr4:157997598 is intronic in GLRB. Linkage analysis revealed 46 SNPs with a LOD?>?3 with the strongest signal at rs1141070 (LODLDL?=?4...
  4. Baguma Nibasheka M, Fracassi A, Costain W, Moreno S, Kablar B. Role of skeletal muscle in motor neuron development. Histol Histopathol. 2016;31:699-719 pubmed publisher
    ..steps revealed that Kif5c, Stxbp1 and Polb, differentially expressed in the MyoD-/- limb muscle, and Ppargc1a, Glrb and Hoxd10, differentially expressed in the Myf5-/- back muscle, are actually regulators of motor neuron numbers...
  5. Zhang Y, Bode A, Nguyen B, Keramidas A, Lynch J. Investigating the Mechanism by Which Gain-of-function Mutations to the ?1 Glycine Receptor Cause Hyperekplexia. J Biol Chem. 2016;291:15332-41 pubmed publisher
    ..Loss-of-function mutations in the GLRA1 or GLRB genes, which encode the ?1 and ? glycine receptor (GlyR) subunits, are the major cause...
  6. Dkhil M, Al Shaebi E, Lubbad M, Al Quraishy S. Impact of sex differences in brain response to infection with Plasmodium berghei. Parasitol Res. 2016;115:415-22 pubmed publisher
    ..At the molecular level, P. berghei was able to induce upregulations of Adam23, Cabp1, Cacnb4, Glrb, and Vdac3-mRNA in the brain of mice...
  7. Lee S, Jeon D, Chu K, Jung K, Moon J, Sunwoo J, et al. Inhibition of miR-203 Reduces Spontaneous Recurrent Seizures in Mice. Mol Neurobiol. 2017;54:3300-3308 pubmed publisher
    ..Here, we show that miR-203 regulates glycine receptor-? (Glrb) in epilepsy models...
  8. Li H, Yang Z, Xue J, Qian P, Liu X. [Clinical and genetic analysis of hyperekplexia in a Chinese child and literature review]. Zhonghua Er Ke Za Zhi. 2017;55:120-124 pubmed publisher
    ..Hyperekplexia" "startle disease" "GLRB" were used as key words to search at CNKI, Wanfang and PubMed from the database from creation to August 2016...
  9. Masri A, Chung S, Rees M. Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. Brain Dev. 2017;39:306-311 pubmed publisher
    ..3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients...
  10. Burzomato V, Groot Kormelink P, Sivilotti L, Beato M. Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation. Receptors Channels. 2003;9:353-61 pubmed
    ..The magnitude of the leftward shift in the agonist dose-response curve for the two mutant combinations was in agreement with a subunit stoichiometry of 3alpha:2beta. ..
  11. Neumann S, Seitz R, Gorzella A, Heister A, Doeberitz M, Becker C. Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines. Brain Res Mol Brain Res. 2004;120:173-81 pubmed
    ..of glycine receptor (GlyR) subunit genes revealed a consensus motif for NRSE in the GLRA1 and GLRA3, but not in GLRB, genes. In this study, we examined tumor cell lines for the expression of NRSF, GlyR subunits and onconeural genes...
  12. Sobetzko D, Sander T, Becker C. Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies. Am J Med Genet. 2001;105:534-8 pubmed
    ..We tested the hypothesis that allelic variants of the glycine receptor subunit genes, GLRA3 and GLRB, both localized on chromosome 4q, confer susceptibility to common subtypes of IGE...
  13. Ziegler E, Bodusch M, Song Y, Jahn K, Wolfes H, Steinlechner S, et al. Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. Naunyn Schmiedebergs Arch Pharmacol. 2009;380:277-91 pubmed publisher
    ..Our data clarify the role of steroid compounds in the modulation of inhibitory receptor channel function. ..
  14. Mine J, Taketani T, Otsubo S, Kishi K, Yamaguchi S. A 14-year-old girl with hyperekplexia having GLRB mutations. Brain Dev. 2013;35:660-3 pubmed publisher
    ..However, the disease was resistant to various antiepileptic drugs and the startle responses persisted. GLRB gene mutations (R50X/Q216fsx222) were identified, after which the patient was diagnosed with hyperekplexia...
  15. James V, Bode A, Chung S, Gill J, Nielsen M, Cowan F, et al. Novel missense mutations in the glycine receptor ? subunit gene (GLRB) in startle disease. Neurobiol Dis. 2013;52:137-49 pubmed publisher
    ..are the major cause of this disorder, since remarkably few individuals with mutations in the GlyR ? subunit gene (GLRB) have been found to date...
  16. Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, et al. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. EMBO Mol Med. 2015;7:1580-94 pubmed publisher
    ..Thus, we describe a missense mutation that affects both functions of gephyrin and suggest that the identified defect at GABAergic synapses is the mechanism underlying the patient's severe phenotype. ..
  17. Deckert J, Weber H, Villmann C, Lonsdorf T, Richter J, Andreatta M, et al. GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder. Mol Psychiatry. 2017;22:1431-1439 pubmed publisher
    ..A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 × 10-8; rs191260602, P=3.9 × 10-8)...
  18. Maric H, Kasaragod V, Hausrat T, Kneussel M, Tretter V, Strømgaard K, et al. Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin. Nat Commun. 2014;5:5767 pubmed publisher
  19. Wegner F, Kraft R, Busse K, Hartig W, Ahrens J, Leffler A, et al. Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing ?2? subunits. PLoS ONE. 2012;7:e36946 pubmed publisher
    ..However, glycine receptors seem to have a limited functional impact on neurogenesis and dopaminergic differentiation of NPCs in vitro. ..
  20. Bode A, Wood S, Mullins J, Keramidas A, Cushion T, Thomas R, et al. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. J Biol Chem. 2013;288:33745-59 pubmed publisher
    ..To our knowledge, this is the first suggestion that subunits lacking TM4 domains might be incorporated into functional pentameric ligand-gated ion channel receptors. ..
  21. Ahrens J, Demir R, Leuwer M, de la Roche J, Krampfl K, Foadi N, et al. The nonpsychotropic cannabinoid cannabidiol modulates and directly activates alpha-1 and alpha-1-Beta glycine receptor function. Pharmacology. 2009;83:217-22 pubmed publisher
    ..3 +/- 22.7 micromol/l). These in vitro results suggest that strychnine-sensitive glycine receptors may be a target for cannabidiol mediating some of its anti-inflammatory and neuroprotective properties. ..
  22. Chen Z, Dillon G, Huang R. Molecular determinants of proton modulation of glycine receptors. J Biol Chem. 2004;279:876-83 pubmed
    ..An extracellular domain consisting of Thr-112 and His-109 at the alpha1 subunit and Thr-135 at the beta subunit plays a critical role in determining proton modulation of glycine receptor function. ..
  23. Chung S, Bode A, Cushion T, Thomas R, Hunt C, Wood S, et al. GLRB is the third major gene of effect in hyperekplexia. Hum Mol Genet. 2013;22:927-40 pubmed publisher
    ..Ligand-gated heteropentameric GlyRs form chloride ion channels that contain the ?(1) and ?-subunits (GLRB) in a 2?(1):3? configuration and they form the predominant population of GlyRs in the postnatal and adult human ..
  24. Shan Q, Han L, Lynch J. Distinct properties of glycine receptor ?+/?- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein. J Biol Chem. 2012;287:21244-52 pubmed publisher
  25. Ahrens J, Leuwer M, Stachura S, Krampfl K, Belelli D, Lambert J, et al. A transmembrane residue influences the interaction of propofol with the strychnine-sensitive glycine alpha1 and alpha1beta receptor. Anesth Analg. 2008;107:1875-83 pubmed publisher
  26. Kumar P, Meizel S. Identification and spatial distribution of glycine receptor subunits in human sperm. Reproduction. 2008;136:387-90 pubmed publisher
    ..Here, by western blot analysis, we report the presence of GLRA1, GLRA2, GLRA3, and GLRB subunits in human sperm...
  27. Mubaraki M, Hafiz T, Al Quraishy S, Dkhil M. Oxidative stress and genes regulation of cerebral malaria upon Zizyphus spina-christi treatment in a murine model. Microb Pathog. 2017;107:69-74 pubmed publisher
    ..The mRNA expression of several genes in the brain of mice including Cacnb4, Adam23, Glrb, Vdac3, and Cabp1 was significantly upregulated during P. berghei infection...
  28. Wu Q, Yang M, Hao P, Yan C, Du C, Li H, et al. GLRB variants regulate nearby gene expression in human brain tissues. Sci Rep. 2017;7:13326 pubmed publisher
    ..association study (GWAS) identified four genetic variants rs78726293, rs191260602, rs17035816 and rs7688285 in GLRB gene to be associated with panic disorder (PD) risk...
  29. Handford C, Lynch J, Baker E, Webb G, Ford J, Sutherland G, et al. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res Mol Brain Res. 1996;35:211-9 pubmed
    ..Fluorescence in situ hybridisation was used to localise the gene encoding the human GlyR beta subunit (GLRB) to chromosome 4q32, a position syntenic with mouse chromosome 3...
  30. Bonnet Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thépault R, et al. GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability. Mol Psychiatry. 2016;21:411-8 pubmed publisher
    ..in ASD patients from each family identified a second rare inherited genetic variant, affecting either the GLRB or the ANK3 genes encoding NLGN4X interacting proteins expressed in inhibitory or in excitatory synapses, ..
  31. Maleeva G, Bregestovski P. [GLYCINE RECEPTOR: MOLECULAR ORGANIZATION AND PATHOLOGY]. Fiziol Zh. 2015;61:107-17 pubmed
    ..Special attention is paid to recent studies on the molecular physiology of these receptors, as well as on presenting of molecular domains responsible for their dysfunction. ..
  32. Ahrens J, Leuwer M, Demir R, Krampfl K, de la Roche J, Foadi N, et al. Positive allosteric modulatory effects of ajulemic acid at strychnine-sensitive glycine alpha1- and alpha1beta-receptors. Naunyn Schmiedebergs Arch Pharmacol. 2009;379:371-8 pubmed publisher
    ..9 +/- 21.5 microM and alpha(1)beta = 154.3 +/- 32.1 microM). These in vitro results demonstrate that ajulemic acid modulates strychnine-sensitive glycine receptors in clinically relevant concentrations. ..
  33. Harvey K, Duguid I, Alldred M, Beatty S, Ward H, Keep N, et al. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci. 2004;24:5816-26 pubmed
    ..The clinical manifestation of this collybistin missense mutation may result, at least in part, from mislocalization of gephyrin and a major GABA(A) receptor subtype. ..
  34. Sarang S, Miller G, Grant D, Schnellmann R. Expression and localization of the neuronal glycine receptor beta-subunit in human, rabbit and rat kidneys. Nephron. 1999;82:254-60 pubmed
    ..These results provide compelling evidence for the GlyR beta-subunit, but not the alpha-subunit, in human, rabbit and rat kidney cortex. ..