Recombinant Human Gamma-aminobutyric acid receptor subunit beta-2 (GABRB2), partial

1. we report the discovery of a de novo heterozygous missense mutation in the GABRB2 gene that encodes the b2 subunit of the GABAA receptor. Our in vitro studies indicate that this mutation causes Early myoclonic encephalopathy via disruption of GABAergic inhibition in the brain PMID: 27789573
2. The GABRB2 downregulation significantly inhibited the colony formation, migration, and invasion of the three PTC cell lines and GABRB2 plays important tumorigenic functions and acts as a novel oncogene in papillary thyroid carcinoma. PMID: 28859983
3. These results reveal alterations in GABRB2 genotype-dependent methylation and hydroxymethylation in schizophrenia. PMID: 28063323
4. Data show evidence for the schizophrenia candidate gene gamma-aminobutyric acid A receptor beta 2 (GABRB2) to play a role in heroin dependence. PMID: 26561861
5. Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction. PMID: 25124326
6. Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the beta2 subunit affected GABA sensitivity and desensitization. PMID: 26016529
7. This study demonstrates altered patterns of N-glycosylation of GABRB2 in the temporal lobe in schizophrenia. PMID: 23917429
8. These findings revealed that GABRB2 is associated with psychosis, the core symptom and an endophenotype of schizophrenia. PMID: 23638040
9. Mutation of GABA receptor beta2 subunit tyrosine residues in the binding pocket shifts the GABA concentration-response curve; GABA binding rates are reduced by mutation to binding pocket tyrosines. PMID: 23121119
10. GABRA receptor beta2 subunit is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. PMID: 20848605
11. This study demonistrated that GABRB2 expression was under epigenetic regulation that varied with development, genotype and disease status, and these regulatory mechanisms were observably disrupted in SCZ and BPD. PMID: 22206711
12. mRNA expression of Gaba(A)beta2 receptor subunit, which preferentially assembles with alpha1 receptor subunits, is also 20% lower in layers 3 and 4 of the dorsolateral prefrontal cortex. PMID: 20843900
13. A novel pol III-dependent non-coding RNA that regulates alternative splicing events and possibly neurodegeneration induced by abnormal GABA B function. PMID: 20888417
14. we identified an even stronger coupling between the two aromatics and for the first time provided direct evidence for the involvement of beta in GABA PMID: 21806616
15. The results of this study pointed to the occurrence of imprinting in the GABRB2 gene and its possible role in the development of schizophrenia. PMID: 20404824
16. beta2Asp163 and alpha1Arg120 form a state-dependent salt bridge, interacting when GABA is bound to the receptor but not when the receptor is in the unbound state. PMID: 21209255
17. analysis of a recombination hotspot in a schizophrenia-associated region of GABRB2 PMID: 20221451
18. Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating. PMID: 20639197
19. Electrophysiological analysis showed that this long beta(2) isoform favored by the positive selections is more sensitive than the short isoform to the inhibition of GABA(A) receptor function by energy depletion PMID: 17520021
20. findings highlight the importance of GABRB2 in neuropsychiatric disease aetiology, with respect to haplotype association, as well as reduction of and temporal effects on gene expression in both schizophrenia and bipolar disorder PMID: 19909288
21. Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene may have a role in psychotic disorders PMID: 19763268
22. This report indicates pronounced adaptive changes in the expression of these GABA(A) receptor subunits related to seizure activity and indicates altered assembly of GABA(A) receptors in temporal lobe epilepsy. PMID: 14503638
23. Properties of recombinant GABRAB2 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators. PMID: 14625018
24. Single nucleotide polymorphisms are associated with schizophrenia. PMID: 14699426
25. No significant difference in mRNA expression is found between the control and alcoholic case groups in either the superior frontal or motor cortex for the GABA A beta 2 isoform PMID: 15337300
26. Six Single Nucleotide Polymorphisms in GABRB2 were genotyped for a case-control association study with the cycloid psychosis subtype of Schizophrenia in the German population using two methods for SNP genotyping. PMID: 16472798
27. Cross-population validation of GABRB2 association with schizophrenia has been obtained with JP and GE subjects, with the genotype-disease correlations being strongest in systematic schizophrenia, the most severe subtype of the disease. PMID: 16950232
28. Results do not support the hypothesis that genetic variation at the GABRB2 locus plays a major role in schizophrenic patients of european descent. PMID: 17167345
29. A cation-pi interaction between GABA and a tyrosine on loop A has been identified by unnatural amino acid mutagenesis, the first example of a cation-pi interaction with a loop A residue in a cysteine-loop neurotransmitter receptor. PMID: 17251430
30. study suggests that the GABRB2 and GAD1 genes individually, as well as the combined effects of the polymorphism in the GAD1, GAD2 and GABRB2 genes, are associated with schizophrenia in the Chinese population PMID: 17412563

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HGNC: 4082

OMIM: 600232

KEGG: hsa:2561

STRING: 9606.ENSP00000274547

UniGene: Hs.303527