Property Summary

NCBI Gene PubMed Count 81
PubMed Score 30.15
PubTator Score 39.12

Knowledge Summary

Patent (3,978)

TINX Plot

  Disease (5)

Disease Target Count
Schizophrenia 503
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytoma -3.900 3.8e-16
ependymoma -6.500 2.3e-18
oligodendroglioma -4.200 2.4e-14
glioblastoma -6.900 1.0e-06
osteosarcoma 1.259 6.9e-07
chronic lymphosyte leukemia 1.300 2.1e-02
medulloblastoma -5.000 2.9e-06
atypical teratoid / rhabdoid tumor -7.200 1.2e-12
medulloblastoma, large-cell -4.700 2.1e-06
primitive neuroectodermal tumor -4.800 7.9e-04
adrenocortical carcinoma -1.733 4.4e-05
intraductal papillary-mucinous neoplasm ... 1.700 2.9e-03
pediatric high grade glioma -6.100 9.3e-08
pilocytic astrocytoma -4.900 8.7e-08
ovarian cancer -2.300 4.3e-08

Protein-protein Interaction (6)

Gene RIF (65)

PMID Text
26561861 Data show evidence for the schizophrenia candidate gene gamma-aminobutyric acid A receptor beta 2 (GABRB2) to play a role in heroin dependence.
26016529 Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the beta2 subunit affected GABA sensitivity and desensitization.
25241062 Both mRNA and protein of GABAB receptor subunits, GABAB1 and GABAB2, were co-expressed in cultured human RPE cells; GABAB receptors regulate the [Ca2+]i via a pertussis toxin-sensitive Gi/o-protein pathway and a phospholipase C pathway
25124326 Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction.
23917429 This study demonstrates altered patterns of N-glycosylation of GABRB2 in the temporal lobe in schizophrenia.
23638040 These findings revealed that GABRB2 is associated with psychosis, the core symptom and an endophenotype of schizophrenia.
23617850 high expression of GABBR2 with a low expression of GABR(A3) may predict a better outcome in non-small cell lung cancer
23308109 Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators.
23266428 Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse.
23121119 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.
22206711 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.
21806616 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
21751815 Data indicate the selectivity of some selected compounds were assessed in recombinant alpha(1)beta(2)gamma(2)L, alpha(2)beta(1)gamma(2)L, and alpha(5)beta(2)gamma(2)L GABA(A) receptors.
21729720 Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor.
21420396 significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population
21209255 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.
20888417 A novel pol III-dependent non-coding RNA that regulates alternative splicing events and possibly neurodegeneration induced by abnormal GABA B function.
20848605 GABRA receptor beta2 subunit is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy.
20843900 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.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20692323 The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls.
20639197 Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating.
20583128 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20404824 The results of this study pointed to the occurrence of imprinting in the GABRB2 gene and its possible role in the development of schizophrenia.
20221451 analysis of a recombination hotspot in a schizophrenia-associated region of GABRB2
19909288 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
19874574 Observational study of gene-disease association. (HuGE Navigator)
19763268 Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene may have a role in psychotic disorders
19763268 Observational study of gene-disease association. (HuGE Navigator)
19705103 Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19523047 Significant matching effects were found for polymorphisms at the DRD2, GABRA6 and GABRB2 gene. In addition, a trend was found for the OPRM1 polymorphism.
19523047 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19367581 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19078961 Observational study of gene-disease association. (HuGE Navigator)
18715757 Meta-analysis of gene-disease association. (HuGE Navigator)
18583979 Meta-analysis of gene-disease association. (HuGE Navigator)
18334916 Observational study of gene-disease association. (HuGE Navigator)
18197653 built homology models of the ion pores of alpha1beta2 and alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic acetylcholine receptor as a template to determine details about the zinc binding site
18180429 Observational study of gene-disease association. (HuGE Navigator)
17520021 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
17440936 Observational study of gene-disease association. (HuGE Navigator)
17412563 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17412563 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
17251430 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.
17167345 Observational study of gene-disease association. (HuGE Navigator)
17167345 Results do not support the hypothesis that genetic variation at the GABRB2 locus plays a major role in schizophrenic patients of european descent.
16950232 Observational study of gene-disease association. (HuGE Navigator)
16950232 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.
16778401 Observational study of gene-disease association. (HuGE Navigator)
16766085 Observational study of gene-disease association. (HuGE Navigator)
16627470 a conserved lysine in the TM2-3 of alpha1, beta2, and gamma2 of the GABA-A receptor has an asymmetric function in different GABAA subunits
16472798 Observational study of gene-disease association. (HuGE Navigator)
16472798 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.
16172613 Observational study of gene-disease association. (HuGE Navigator)
15542698 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15337300 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
15033447 extracellular domain models show subunit arrangement of GABA-A receptors
15016806 Two etomidate sites allosterically enhance GABA(A) receptor subunit gating independently of agonist binding.
14699426 Single nucleotide polymorphisms are associated with schizophrenia.
14625018 Properties of recombinant GABRAB2 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators.
14503638 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.
12232773 Observational study of gene-disease association. (HuGE Navigator)
11140951 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIAS      1 - 70
IDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMI     71 - 140
RLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQF    141 - 210
SIVDYKLITKKVVFSTGSYPRLSLSFKLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGIT    211 - 280
TVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANN    281 - 350
EKMRLDVNKIFYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEA    351 - 420
VMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRW    421 - 490
SRIFFPVVFSFFNIVYWLYYVN                                                    491 - 512
//

Text Mined References (82)

PMID Year Title
26561861 2015 GABRB2 Haplotype Association with Heroin Dependence in Chinese Population.
26016529 2015 Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner.
25241062 2014 GABAB1 and GABAB2 receptor subunits co-expressed in cultured human RPE cells regulate intracellular Ca2+ via Gi/o-protein and phospholipase C pathways.
25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.
23917429 2014 N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia.
23638040 2013 Social cognitive role of schizophrenia candidate gene GABRB2.
23617850 2013 Expression of gamma-aminobutyric acid receptors on neoplastic growth and prediction of prognosis in non-small cell lung cancer.
23308109 2013 A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites.
23266428 2013 Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse.
23121119 2013 Multiple tyrosine residues at the GABA binding pocket influence surface expression and mediate kinetics of the GABAA receptor.
22206711 2012 Epigenetic regulation on GABRB2 isoforms expression: developmental variations and disruptions in psychotic disorders.
21806616 2011 A tight coupling between ??Y97 and ??F200 of the GABA(A) receptor mediates GABA binding.
21751815 2011 New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds.
21729720 2011 Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse.
21420396 2011 Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
21209255 2011 A state-dependent salt-bridge interaction exists across the ?/? intersubunit interface of the GABAA receptor.
20888417 2011 17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease.
20848605 2012 Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy.
20843900 2011 Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20692323 2010 Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
20639197 2010 Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating.
20583128 2010 Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20404824 2011 Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor ?(2) subunit.
20221451 2010 A recombination hotspot in a schizophrenia-associated region of GABRB2.
19909288 2009 GABRB2 in schizophrenia and bipolar disorder: disease association, gene expression and clinical correlations.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19763268 2009 Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders.
19705103 2009 Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19523047 2009 Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators.
19367581 2010 Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19078961 2010 Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18715757 2008 Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
18583979 2008 Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.
18334916 2008 Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
18197653 2008 Molecular modeling and mutagenesis reveals a tetradentate binding site for Zn2+ in GABA(A) alphabeta receptors and provides a structural basis for the modulating effect of the gamma subunit.
18180429 2008 Family-based association study of lithium-related and other candidate genes in bipolar disorder.
17520021 2007 Positive selection within the Schizophrenia-associated GABA(A) receptor beta(2) gene.
17440936 2007 Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population.
17412563 2007 Systematic study of association of four GABAergic genes: glutamic acid decarboxylase 1 gene, glutamic acid decarboxylase 2 gene, GABA(B) receptor 1 gene and GABA(A) receptor subunit beta2 gene, with schizophrenia using a universal DNA microarray.
17251430 2007 Unnatural amino acid mutagenesis of the GABA(A) receptor binding site residues reveals a novel cation-pi interaction between GABA and beta 2Tyr97.
17167345 2007 No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia.
16983389 2006 Two isoforms of GABA(A) receptor beta2 subunit with different electrophysiological properties: Differential expression and genotypical correlations in schizophrenia.
16950232 2007 GABRB2 association with schizophrenia: commonalities and differences between ethnic groups and clinical subtypes.
16778401 2006 Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.
16766085 2006 GABA(A) receptor beta isoform protein expression in human alcoholic brain: interaction with genotype.
16627470 2006 An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits.
16472798 2006 Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping.
16172613 2005 Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.
15542698 2004 Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15337300 2004 GABAA receptor beta subunit mRNA expression in the human alcoholic brain.
15033447 2004 Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5.
15016806 2004 Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation.
14966130 2004 Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14699426 2004 Association of SNPs and haplotypes in GABAA receptor beta2 gene with schizophrenia.
14625018 2003 Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics.
14503638 2003 Increased expression of GABA(A) receptor beta-subunits in the hippocampus of patients with temporal lobe epilepsy.
12819203 2003 GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2.
12574411 2003 Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12435728 2003 Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase.
12232773 2002 Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.
12034717 2002 Identification, molecular cloning, and characterization of a novel GABAA receptor-associated protein, GRIF-1.
11854302 2002 Oligomerization of G-protein-coupled receptors shown by selective co-immunoprecipitation.
11140951 2000 Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.
11085308 2000 Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex.
10493732 1999 Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells.
10449790 1999 theta, a novel gamma-aminobutyric acid type A receptor subunit.
10023064 1999 Evolution of GABA(A) receptor diversity in the human genome.
9153573 1997 Localization of CAM II kinase-alpha, GAD, GluR2 and GABA(A) receptor subunit mRNAs in the human entorhinal cortex.
8590827 GABAA receptor subunit gene expression in human prefrontal cortex: comparison of schizophrenics and controls.
8264558 1993 Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors.
8175718 1994 gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties.
7851879 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.
7707873 1995 Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor.
1334482 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.
1321150 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.