Property Summary

NCBI Gene PubMed Count 119
PubMed Score 74.33
PubTator Score 149.17

Knowledge Summary

Patent (1,880)

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Alcohol dependence 107 3.011 1.5

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -3.500 1.2e-03
posterior fossa group A ependymoma -7.000 2.2e-24
oligodendroglioma -3.100 2.9e-10
glioblastoma -6.600 3.7e-07
sonic hedgehog group medulloblastoma -3.500 1.1e-04
atypical teratoid / rhabdoid tumor -7.300 2.2e-16
medulloblastoma, large-cell -3.100 8.7e-04
primitive neuroectodermal tumor -4.700 1.0e-04
pediatric high grade glioma -5.900 1.8e-09
pilocytic astrocytoma -6.700 2.3e-16
subependymal giant cell astrocytoma -4.723 1.3e-02
lung carcinoma 2.600 2.0e-10
Pick disease -2.000 4.5e-02

Gene RIF (113)

PMID Text
26239769 GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset.
26016529 Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors.
26005849 Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration.
25731747 This study demonstrated that in vivo cortical and thalamic measurements in a mouse model of human genetic childhood absence epilepsy and febrile seizures carrying a point mutation in the gamma2 subunit of the GABA(A) receptor
25726841 Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy.
24912277 A dynamic regulation of the intracellular trafficking of GABA(A) receptors and its involvement in the pathophysiology of epilepsy. (review)
24874541 Study investigated the pathogenesis of febrile seizures by determining how the gamma2 subunit mutation, R177G, altered GABAA receptor biogenesis and physiological properties
24798517 This study demonistrated that epilepsy-associated mutations N79S, R82Q and P83S disrupted GABAA receptor assembly to different extents, an effect that could be potentially rescued by facilitating protein folding and assembly.
24776921 results suggest that gamma-aminobutyric acid receptor, gamma2 subtype may be involved in suicidal behaviour in schizophrenia patients with alcohol dependence or abuse.
24630281 Heterozygous gamma-aminobutyric acid A receptor gamma2 subunit (R43Q) mutation may have an effect in the development of febrile seizures
24480790 The results demonstrated that a nonsense mutation of GABRG2 found in a severe epilepsy phenotype results in abnormal intracellular trafficking of GABAA receptors.
24425869 Switching the intracellular domains of the gamma2 and gamma1 subunits substantiated this inference. Because this region determines post-synaptic localization, we hypothesize that GABAARs containing gamma1 and gamma2 use different mechanisms for synaptic clustering.
24407264 study found a novel GABRG2(p.R136*) mutation, which extends the spectrum of GABRG2 mutations identified in generalised epilepsy with febrile seizures plus and genetic generalised epilepsy phenotypes, causes GABAA receptor dysfunction, and represents a putative epilepsy mechanism
24368169 Data show that spike-and-wave discharge-free mice harboring the Gabrg2 R43Q mutation had no spatial learning deficit
24199598 Data suggest that GABA(A) receptor subunits (alpha-1 and beta-3) are able to form homologous receptors with either delta (extrasynaptic) or gamma-2 subunits (synaptic); allosteric modulation appears similar in the presence of agonist etomidate.
24198379 HIV-1 Tat activates a CaMKII pathway at inhibitory synapses that leads to structural changes in GABARAP, resulting in increased membrane insertion of the gamma 2 subunit of GABAR
24061200 study could substantiate that among the GABA(A) receptor subunit gene cluster polymorphisms, the GABRG2, rs211037 predisposes susceptibility to epilepsy, irrespective of its phenotype, but not to antiepileptic drug resistance
23720301 The results of this study proposed that stability of trafficking-deficient mutant gamma2 subunits may be a phenotype modifier in the associated genetic epilepsies
23677991 Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor.
23308109 Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators.
23287319 These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome.
23266428 Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse.
23257655 the changes in the steepness of the concentration-response relationship for GABA in the N40S receptor may trigger epilepsy.
23140995 This study showed significant association of GABRG2 rs211037 with susceptibility to febrile seizure.
23069679 The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel gamma2 subunit gene (GABRG2) frameshift mutation.
22750526 The results indicated that the GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome, engaged the cellular quality control machinery to activate nonsense mediated mRNA decay to decrease mutant mRNA levels and produced a truncated signal peptide that was not incorporated into functional receptors.
22572707 Although GABRG2 has been found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, a role for the tested GABRG2 variant in migraine is not supported.
22539854 The results of this study suggested that the GABRG2 mutation, IVS6+2T-->G, reduced surface alphabetagamma2 receptor levels, thus reducing GABAergic inhibition, by reducing GABRG2 transcript level and producing a stable, nonfunctional truncated subunit.
22239287 GABRG2 C588T gene polymorphisms plays a role in seizure occurence.
22011963 Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed
21983990 GABRG2 (SNP211037)-C allele could be a suitable marker for prediction of susceptibility to febrile seizures (FS) in Egyptian children. The frequency of CC genotype of GABRG2 gene was higher in children with FS compared to healthy children.
21908847 Our data suggest the K289M mutation in gamma2 confers GABA(A)Rs with enhanced sensitivity of their membrane diffusion to neuronal activity
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.
21714819 Results report the identification of three novel mutations in two GABAA receptor subunits, GABRA1 and GABRG2, found in patients with idiopathic generalized epilepsy.
21474657 The interaction between midazolam and propofol is affected by receptor subtype, and protein kinase phosphorylation influences their interaction on the alpha(1)beta(2)gamma(2)L receptor.
21219304 Internalization of GABA(A) receptor gamma2 is not associated with the cellular mechanism underlying febrile seizure genesis in patients with a missense mutation at this receptor.
20583128 Observational study of gene-disease association. (HuGE Navigator)
20485450 this study further investigates the role of GABRG2 in the pathogenesis of childhood epilepsy
20485450 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20356767 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20132297 GABRG2 subunit expression decreases with age in patient with pediatric epilepsy.
20098824 results from this study do not provide support for the hypothesis of linkage disequilibrium between the GABAA receptor-gamma2 gene and obsessive-compulsive disorder.
20098824 Observational study of gene-disease association. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19854014 Observational study of gene-disease association. (HuGE Navigator)
19842164 These findings suggest that common variation in the GABRA2, GABRA3, GABRA6, and GABRG2 genes does not play a major role in liability to anxiety spectrum disorders.
19842164 Observational study of gene-disease association. (HuGE Navigator)
19834535 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.
19682861 The results of the present study suggest that GABRG2 may be involved in SCZ susceptibility, but further studies are required.
19682861 Observational study of gene-disease association. (HuGE Navigator)
19650112 These findings suggest that in the autistic group this downregulation of both benzodiazepine sites and GABA(A) receptors in the ACC.
19553237 2(L287A) mutation introduced a modest defect in GABA-induced gating that simultaneously increased propofol potentiation.
19523047 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19522081 Observational study of gene-disease association. (HuGE Navigator)
19428381 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19292758 Observational study of gene-disease association. (HuGE Navigator)
19236456 Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.
19219857 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19078961 Observational study of gene-disease association. (HuGE Navigator)
19065515 the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and the genotype-phenotype correlations and its inheritance
19019179 results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus
18825662 Seizure susceptibility was significantly reduced in mice where the GABRG2 Q43 allele was suppressed during development.
18755274 Observational study of gene-disease association. (HuGE Navigator)
18566737 Novel ligand-gated gamma aminobutyric acid receptor(GABRG)2 and sodium channel voltage-gated type I alpha subunit (SCN1A) gene mutations are found in two unrelated Chinese families with generalized epilepsy with febrile seizures plus (GEFS+).
18292428 Using wild type/mutated receptor subunits to identify compounds with anesthetic effect.
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
18175077 Febrile Seizure is not related to the most common mutations of GABRG2 in two Tunisian families
18085588 In the SNr GABA(A) receptors contain alpha(1), alpha(3), beta(2,3), and gamma(2) subunits and are localized in a weblike network over the cell soma, dendrites, and spines of SNr parvalbumin-positive nonpigmented neurons.
17927801 This suggests that mutations in the GABRG2 gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.
17880575 Observational study of gene-disease association. (HuGE Navigator)
17880575 study found mutations of GABRA1, GABRB3, and GABRG2 appear not to play a major role in the development of familial primary dystonia
17641256 Observational study of gene-disease association. (HuGE Navigator)
17641256 In south china, the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRD2 gene not releate to children with febrile seizures.
17440936 Observational study of gene-disease association. (HuGE Navigator)
17162195 Observational study of gene-disease association. (HuGE Navigator)
17162195 the gamma2 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies
17124266 alpha4beta3gamma2L receptors have unique kinetic properties that limit the range of GABA applications to which they can respond maximally.
16806831 Observational study of gene-disease association. (HuGE Navigator)
16806831 Our results suggest that common variants of strong effect in GABRG2 do not appear to play a role in the development of common, complex forms of epilepsy.
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
16412095 Models of GABA(A) receptors composed of alpha1 beta3 gamma2 subunits were generated and were used for predicting putative engineered cross-link sites between the alpha1 and the gamma2 subunit.
16172613 Observational study of gene-disease association. (HuGE Navigator)
15955415 Observational study of genotype prevalence. (HuGE Navigator)
15772696 Observational study of gene-disease association. (HuGE Navigator)
15542698 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15470132 The GABAA receptor gamma2 subunit R43Q mutation impaired GABA(A) receptor function by compromising receptor trafficking and reducing surface expression.
15342642 the GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors
15257153 Gaba A receptor gamma 1/3 immunolabeling in prefrontal cortex of bipolar disorder subjects was more intense than controls and schizophrenics. There was a significant increase in gamma 1 subunit in bipolar subjects, with no difference in schizophrenics.
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.
14981251 Human gamma 2L subunit is capable of forming fully functional GABA receptors by itself in Xenopus oocytes.
14966130 Association of the GABA(B)R1 with the GABA(A) receptor gamma2S subunit robustly promotes cell surface expression of GABA(B)R1 in the absence of GABA(B)R2, that is usually required for efficient trafficking of GABA(B)R1 to the cell surface.
14736867 serine 171 may play a critical role in the formation and stabilization of an exposed turn structure that is part of the subunit interaction site.
14625018 Properties of recombinant GABRG2 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators.
14593118 Ser171 and Tyr172 in the GABAA receptor gamma2 subunit constitute a critical motif for access to the cell surface
14569258 In the polymorphic SNPs, significant differences between methamphetamine users and controls were identified in the female sample of the GABA(A)alpha1 subunit gene, and novel SNP in GABA(A)gamma2 subunit gene. No associations were found in the male sample.
12759178 Observational study of gene-disease association. (HuGE Navigator)
12694927 Observational study of gene-disease association. (HuGE Navigator)
12694927 No difference in allele frequency observed for severe myoclonic epilepsy of infancy patients compared to control population.
12672902 Observational study of gene-disease association. (HuGE Navigator)
12672902 GABRG2 gene might be one of the susceptibility factors for febrile seizures
12384214 GABRG2 gene might be neither a susceptibility gene for CAE nor in linkage disequilibrium with disease-predisposing sites in the Chinese population
12367595 using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from gamma2 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits
12232773 Observational study of gene-disease association. (HuGE Navigator)
12225856 modeling of molecular configuration
12117362 Observational study of gene-disease association. (HuGE Navigator)
12117362 The GABRG2 gene seems to confer a rare, rather than frequent, major susceptibility effect to common idiopathic absence epilepsy syndromes.
11748509 truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
11140951 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPKVPEGDVTVIL      1 - 70
NNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSN     71 - 140
MVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSS    141 - 210
YGYPREEIVYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTY    211 - 280
IPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSAL    281 - 350
VEYGTLHYFVSNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC    351 - 420
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL                           421 - 467
//

Text Mined References (122)

PMID Year Title
26239769 2015 Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
26016529 2015 Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner.
26005849 2015 The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.
25731747 2015 Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.
25726841 2015 Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
24912277 2014 [GABA(A) receptor trafficking and epilepsy].
24874541 2014 GABAA receptor biogenesis is impaired by the ?2 subunit febrile seizure-associated mutation, GABRG2(R177G).
24798517 2014 Three epilepsy-associated GABRG2 missense mutations at the ?+/?- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
24776921 2014 Association study of GABRG2 polymorphisms with suicidal behaviour in schizophrenia patients with alcohol use disorder.
24630281 2014 The GABAA receptor ?2 subunit (R43Q) mutation in febrile seizures.
24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
24425869 2014 GABAA receptor ? and ? subunits shape synaptic currents via different mechanisms.
24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
24368169 2014 Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy.
24199598 2014 Etomidate produces similar allosteric modulation in ?1?3? and ?1?3?2L GABA(A) receptors.
24061200 2013 GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.
23720301 2013 Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
23677991 2013 Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human ?1?3?2 ?-aminobutyric acid type A (GABAA) receptor.
23308109 2013 A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites.
23287319 Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.
23266428 2013 Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse.
23257655 2013 Properties of a novel GABAA receptor ?2 subunit mutation associated with seizures.
23140995 2013 GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis.
23069679 2013 Impaired surface ??? GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
22750526 2012 The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
22572707 2012 Investigation of the role of the GABRG2 gene variant in migraine.
22539854 2012 The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated ?2 subunit.
22239287 2012 Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.
22011963 2012 Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.
21983990 2012 GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures.
21908847 2012 A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.
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.
21714819 2011 Novel ?1 and ?2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
21474657 2011 Interactions of midazolam and propofol on ?1?2?2L and ?1?2?2S gamma aminobutyric acid type A receptors expressed in human embryonic kidney cells.
21219304 2011 Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy.
20583128 2010 Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20356767 2010 Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population.
20132297 2010 Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy.
20098824 2009 The GABA(A)-receptor ?2 (GABRG2) gene in obsessive-compulsive disorder.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19854014 2010 Genetic susceptibility to febrile seizures: case-control association studies.
19842164 2009 Association study between GABA receptor genes and anxiety spectrum disorders.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
19705103 2009 Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19682861 2009 Association study of the gamma-aminobutyric acid type a receptor gamma2 subunit gene with schizophrenia.
19650112 2009 Decreased GABAA receptors and benzodiazepine binding sites in the anterior cingulate cortex in autism.
19553237 2009 Inverse effects on gating and modulation caused by a mutation in the M2-M3 Linker of the GABA(A) receptor gamma subunit.
19523047 2009 Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators.
19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
19428381 2009 Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis.
19292758 2009 Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
19236456 2009 Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.
19219857 2009 Genetic association studies of methamphetamine use disorders: A systematic review and synthesis.
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.
19065515 2008 [Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus].
19019179 2009 An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression.
18825662 2008 Developmental impact of a familial GABAA receptor epilepsy mutation.
18755274 2008 A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
18566737 2008 SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
18292428 2008 The anesthetic-like effects of diverse compounds on wild-type and mutant gamma-aminobutyric acid type A and glycine receptors.
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.
18175077 2007 GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.
18085588 2008 Differential localization of GABAA receptor subunits within the substantia nigra of the human brain: an immunohistochemical study.
17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
17880575 2007 Screening of GABA(A)-receptor gene mutations in primary dystonia.
17641256 2007 Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures.
17440936 2007 Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population.
17162195 2007 Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.
17124266 2007 Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA.
16924025 2006 A novel GABRG2 mutation associated with febrile seizures.
16806831 2006 Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs.
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.
16412095 2006 Identification of amino acid residues important for assembly of GABA receptor alpha1 and gamma2 subunits.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16172613 2005 Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.
15955415 2005 Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.
15772696 2005 Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder.
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).
15470132 2004 The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15342642 2004 A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.
15257153 2004 GABAA receptor gamma subunits in the prefrontal cortex of patients with schizophrenia and bipolar disorder.
15033447 2004 Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5.
15028279 2004 PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.
15016806 2004 Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation.
14981251 2004 Expression of functional receptors by the human gamma-aminobutyric acid A gamma 2 subunit.
14966130 2004 Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking.
14736867 2004 Serine 171, a conserved residue in the gamma-aminobutyric acid type A (GABAA) receptor gamma2 subunit, mediates subunit interaction and cell surface localization.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14625018 2003 Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics.
14593118 2004 Cloning and characterization of a GABAA receptor gamma2 subunit variant.
14569258 2003 Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder.
12759178 2003 Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.
12694927 2003 No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
12672902 2003 Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.
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.
12384214 2002 Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy.
12367595 2002 Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.
12367594 2002 Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation.
12232773 2002 Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.
12225856 2002 Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling.
12117362 2002 A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
11948245 2002 Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors.
11328646 2000 Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.
11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
11140951 2000 Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.
10659839 2000 Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors.
10449790 1999 theta, a novel gamma-aminobutyric acid type A receptor subunit.
9892355 1999 GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton.
8875185 1996 Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.
8382267 1993 Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor.
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.
2538761 1989 Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.
1321425 1992 Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.
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.