Gene: GABRG2

Alternate names for this Gene: CAE2|ECA2|EIEE74|FEB8|GEFSP3

Gene Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q34

Description of this Gene: gamma-aminobutyric acid type A receptor subunit gamma2

Type of Gene: protein-coding

rs1060501889 in GABRG2 gene and EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 23720301 2013 Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

PMID 18566737 2008 SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

PMID 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.

PMID 15866052 2005 The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 24630281 2014 The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.

PMID 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.

PMID 12097483 2002 Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

PMID 18094250 2007 GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition.

PMID 16510738 2006 Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

rs1554098235 in GABRG2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs1060501889 in GABRG2 gene and FEBRILE CONVULSIONS, FAMILIAL, 8 PMID 18566737 2008 SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 23720301 2013 Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

PMID 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.

PMID 15866052 2005 The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.

PMID 18094250 2007 GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition.

PMID 12097483 2002 Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

PMID 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.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 16510738 2006 Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

PMID 24630281 2014 The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.

rs121909672 in GABRG2 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

rs1554100923 in GABRG2 gene and Movement Disorders PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

rs1554100923 in GABRG2 gene and Muscle hypotonia PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

rs397514737 in GABRG2 gene and Seizures PMID 25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.