Property Summary

NCBI Gene PubMed Count 91
PubMed Score 85.02
PubTator Score 112.39

Knowledge Summary

Patent (1,605)


  Disease (6)

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


  Differential Expression (16)

Disease log2 FC p
astrocytoma -4.800 3.8e-03
posterior fossa group A ependymoma -4.200 2.5e-10
oligodendroglioma -3.800 1.3e-19
glioblastoma -4.800 7.8e-04
group 4 medulloblastoma -4.500 1.6e-07
atypical teratoid / rhabdoid tumor -4.400 1.7e-07
medulloblastoma, large-cell -3.700 5.8e-05
primitive neuroectodermal tumor -3.600 1.1e-03
Parkinson's disease -1.500 2.2e-02
adult high grade glioma -3.800 1.8e-05
pilocytic astrocytoma -4.100 1.9e-07
subependymal giant cell astrocytoma -3.798 8.8e-03
lung carcinoma 1.500 1.2e-12
ulcerative colitis -1.200 3.3e-02
pituitary cancer -1.100 3.1e-04
psoriasis -1.500 9.8e-25

 CSPA Cell Line (2)

Protein-protein Interaction (8)

Gene RIF (100)

26250693 Alcohol dependence-associated variation in GABRA2 is associated with differential expression of the entire cluster of GABAA subunit genes on chromosome 4p12 in neural stem cells.
26116794 The results of this study support a growing body of evidence linking GABAA receptors with the development of alcohol tolerance, dependence and withdrawal symptoms
26087834 Recent drinking history (p = 0.01), and recent drinking history x genotype interaction (p = 0.01) were significantly associated with acute adaptation of the subjective responses to alcohol for the GABRA2 SNP rs279858.
25804982 GABRA2 SNPs directly predicted adolescent alcohol problems.
25797587 A GABRA2 x Parental Monitoring effect on externalizing behavior trajectory was observed, such that A-carriers were largely unaffected by parental monitoring, whereas trajectory for those with the GG genotype was affected by parental monitoring.
25514066 GABRA2 genetic variants play a role in antipsychotic-associated weight gain.
25365806 Results suggest that the genetic effect of GABRA2 on externalizing behavior, more specifically on rule breaking is, at least in part, due to its effect on susceptibility to environmental exposure (i.e., peer delinquency)
24975023 This study demonstrates an impact of GABRA2 genotype on incentive-motivation neurocircuitry in adolescence, with implications for vulnerability to alcoholism.
24811113 GABRA2 is significantly associated with rule breaking in mid- to late adolescence, but not substance abuse symptomatology across adolescence.
24687270 the current study failed to replicate previous associations between two well replicated GABRA2 single nucleotide polymorphisms and conduct disorder and CD and alcohol dependence
24166645 Two single nucleotide polymorphisms (SNPs) in GABRA2 are associated with altered stimulatory effects of alcohol.
24155926 HIV-1 gp120 induces mucus formation through the NACHRA7/GABRA2 pathway in normal human bronchial epithelial cells
24136292 The results support the involvement of the brain GABA receptor gene, GABRA2, in the pathogenesis of alcohol dependence.
24045508 Wild-type and mutant mice have similar baseline nociceptive sensitivities and develop similar hyperalgesia specifically targeting alpha2-GABAA receptors which exert their antihyperalgesic effect through enhanced spinal nociceptive control.
24022508 GABRA2 protein and mRNA levels were significantly increased in schizophrenia, major depressive disorder, and bipolar disorder patients' lateral cerebellum compared to controls.
23974430 The current study examined the influence of gender, negative and positive daily life events, and GABRA2 genotype (SNP rs279871) on alcohol dependence
23692184 The results suggest that SNP variation in the GABRA2 gene leads to higer risk of increased drunkenness in the period adolescence to you adulthood
23600744 We present a model of 2-AG docked to the GABA(A) receptor
23566244 GABRA2 variation in the region between introns 3 and 4 is associated with impulsiveness and this effect partially influences the development of alcohol problems.
23480690 Upregulation of GABRA2 may indicate that GABA might play a role in the pathogenesis of pruritus in intrahepatic cholestasis of pregnancy
22882391 The gene for the GABA-A receptor alpha-2 subunit, the G allele of the SNP rs11503014 was associated with high cocaine cue-reactivity.
22882390 This study revealed a positive correlation, among women, between BMI and the GABRA2 genotype, previously associated with both conduct problems and substance dependence.
22555154 There is evidence that variants in the GABRA2 gene are associated with alcoholism.
22501025 Variation within GABRA2 is associated with attenuated negative responses to alcohol, a known risk factor for vulnerability to alcohol use disorders.
22129841 GABRA2 genotype, as well as the number of intake drug abuse problems and a younger age, were associated with an increased risk of relapse
22047728 An interaction between allelic variation in GABRA2 and BDNF genes was associated with GM volumes, suggesting that inherited variation in these genes may promote early developmental differences in neuronal proliferation of the cerebellum.
21919924 a highly significant difference was shown between alcohol dependence subjects and controls in the frequency of a single nucleotide polymorphisms GABRA2 haplotype
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.
21683760 no evidence for an association between GABRA2 polymorphisms and alcohol dependence.
21483437 results suggest that GABRA2 genetic variation is associated with Impulsiveness through variation of insula activity responses.
21118274 GABRA2 alleles affect the subjective responses to alcohol, and suggest that the genetic variations in GABRA2 might play a role in the risk of alcohol use disorders by moderating the subjective effects of alcohol.
20843900 In subjects with schizophrenia, mean GABA(A) alpha2 receptor subunit mRNA expression is 14% higher in layer 2 of the dorsolateral prefrontal cortex.
20716301 conduct problems, and a conduct-problem-associated GABRA2 genotype, decrease the age-of-onset and/or increase the lifetime duration of obesity.
20698837 These are the first data to suggest that GABRA2 genotype could affect the brain's responses to cues associated with alcohol.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20622020 Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit.
20602615 Observational study of gene-disease association. (HuGE Navigator)
20583128 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20225194 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20202923 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20133874 found specific markers and haplotypes of the GABRA2 gene to be associated with cocaine addiction
20102561 No evidence of an association is found at the allele, genotype, haplotype, or diplotype levels between the alpha-2 subunit of GABA receptor single nucleotide polymorphisms and alcoholism in Italian controls.
20048764 In stroke case, the GABRA2 was down regulation in auditory cortex.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19874574 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)
19833324 Together with childhood trauma, GABRA2 variation influences risk and resilience for all addiction but most strongly for heroin dependence.
19833324 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19783384 No association between GABRA2 single nucleotide polymorphism and alcohol dependence in adolescents.
19783384 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19672139 Genetic variation at or near the GABRA2 locus significantly affects vulnerability not only to alcohol dependence, but to other forms of substance use including nicotine dependence and cannabis dependence, and that the effects may be sex dependent.
19672139 Observational study of gene-disease association. (HuGE Navigator)
19487630 The GABRA2 gene was associated with class membership, with subjects who showed persistent elevated trajectories of externalizing behavior more likely to carry the genotype previously associated with increased risk of adult alcohol dependence.
19487630 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19229201 examined whether risk for PTSD is associated with G x E interactions involving GABRA2 polymophism and childhood trauma exposure
19229201 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19207358 Of the 39 newly genotyped SNPs, 19 SNPs were associated with case status (FTND scores of 4+) at P-values less than 0.01.
19207358 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)
18821008 Data show that GABRA2 is significant reductions in parietal cortex in subjects with autism.
18818659 results suggest that there are likely to be independent, complex contributions from both GABRG1 and GABRA2 to alcoholism vulnerability based on the genotyping of 24 GABRG1 and GABRA2 SNPs in Finnish Caucasian men and Plains Indian men and women.
18818659 Observational study of gene-disease association. (HuGE Navigator)
18781239 results demonstrated that GABRA2--originally associated with a diagnosis of alcohol dependence in adults--also predicted the onset of symptoms among subjects in their 20s
18727688 GABRA2 allelic associations found in clinical case-control studies have detectable but minor effects on DSM-defined alcohol dependence in the general community.
18727688 Observational study of gene-disease association. (HuGE Navigator)
18519829 Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders.
18482426 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18361719 GABRA2 variation contributes to genetic susceptibility to alcohol dependence. Allelic associations were found for body sway, motor coordination, pursuit rotor and arithmetical computation tasks and neuroticism.
18361719 Observational study of gene-disease association. (HuGE Navigator)
18005236 GABRA2 mRNA levels significantly differed by GABRA2 genotype. GABRA2 single nucleotide polymorphisms were associated with sensitivity to the acute effects of alcohol.
18005236 Observational study of gene-disease association. (HuGE Navigator)
17976953 study of patterns of htSNPs & linkage disequilibrium (LD)in 6 populations; LD extended from most of the GABRA2 gene through the GABRG1 locus in the same GABAA cluster region suggesting possible association of these genes with alcohol dependence
17949392 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17949392 The assessment of genetic vulnerability may be relevant to studies of the efficacy of psychosocial treatment: GABRA2 genotype modifies the variance in drinking and can therefore moderate power for resolving differences between treatments.
17690794 Observational study of gene-disease association. (HuGE Navigator)
17690794 no evidence of a relationship between GABRA2 and alcohol dependence
17655760 Observational study of gene-disease association. (HuGE Navigator)
17507911 The GABRA2 haplotype block may act in a dominant manner in relation to risk of alcohol dependence.
17507911 Observational study of gene-disease association. (HuGE Navigator)
17207817 gabra2 gene is associated with risk for alcohol dependence.
17207817 Observational study of gene-disease association. (HuGE Navigator)
16894595 Observational study of gene-disease association. (HuGE Navigator)
16894595 A modest associations between GABRA2 genotypes and addiction phenotypes.
16622805 Observational study of gene-disease association. (HuGE Navigator)
16622805 Results suggest an association between marijuana dependence, illicit drug dependence and alcoholism with single nucleotide polymorphismss in the GABRA2 gene.
16562401 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16557364 Observational study of gene-disease association. (HuGE Navigator)
16557364 Risk for alcohol dependence associated with GABRA2 is not evident until the mid-20s and then remains throughout adulthood, which is also associated with other drug dependence.
16395124 Observational study of gene-disease association. (HuGE Navigator)
16080114 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15950776 A complex pattern of alternative splicing and alternative promoter use of the human GABRA2 mRNA was demonstrated. There are four major isoforms consisting of combinations of two alternative 5' and 3' exons.
15834213 Observational study of gene-disease association. (HuGE Navigator)
15702134 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15274050 Observational study of gene-disease association. (HuGE Navigator)
15033447 extracellular domain models show subunit arrangement of GABA-A receptors
15024690 GABRA2 might influence susceptibility to alcohol dependence by modulating the level of neural excitation

AA Sequence

SRIVFPVLFGTFNLVYWATYLNREPVLGVSP                                           421 - 451

Text Mined References (92)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26250693 2015 GABRA2 Alcohol Dependence Risk Allele is Associated with Reduced Expression of Chromosome 4p12 GABAA Subunit Genes in Human Neural Cultures.
26116794 2015 Association of GABAA receptor ?2 subunit gene (GABRA2) with alcohol dependence-related aggressive behavior.
26087834 2015 Adaptation of Subjective Responses to Alcohol is Affected by an Interaction of GABRA2 Genotype and Recent Drinking.
25804982 2016 Mechanisms in the relation between GABRA2 and adolescent externalizing problems.
25797587 2016 Susceptibility effects of GABA receptor subunit alpha-2 (GABRA2) variants and parental monitoring on externalizing behavior trajectories: Risk and protection conveyed by the minor allele.
25514066 2015 Association study of GABAA ?2 receptor subunit gene variants in antipsychotic-associated weight gain.
25365806 2014 Genetic variation in GABRA2 moderates peer influence on externalizing behavior in adolescents.
25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
24975023 2014 Effect of GABRA2 genotype on development of incentive-motivation circuitry in a sample enriched for alcoholism risk.
24811113 2014 Rule breaking mediates the developmental association between GABRA2 and adolescent substance abuse.
24687270 2014 Examination of genetic variation in GABRA2 with conduct disorder and alcohol abuse and dependence in a longitudinal study.
24166645 A GABRA2 variant is associated with increased stimulation and 'high' following alcohol administration.
24136292 2014 Association of gamma-aminobutyric acid A receptor ?2 gene (GABRA2) with alcohol use disorder.
24045508 2014 Antihyperalgesia by ?2-GABAA receptors occurs via a genuine spinal action and does not involve supraspinal sites.
24022508 2013 Expression of GABAA ?2-, ?1- and ?-receptors are altered significantly in the lateral cerebellum of subjects with schizophrenia, major depression and bipolar disorder.
23974430 2013 Gender-specific gene-environment interaction in alcohol dependence: the impact of daily life events and GABRA2.
23692184 2014 Genetic influences on alcohol use across stages of development: GABRA2 and longitudinal trajectories of drunkenness from adolescence to young adulthood.
23600744 2013 Molecular analysis of the site for 2-arachidonylglycerol (2-AG) on the ?? subunit of GABA(A) receptors.
23566244 2013 Impulsiveness mediates the association between GABRA2 SNPs and lifetime alcohol problems.
23480690 2013 Intrahepatic cholestasis of pregnancy: new insights into its pathogenesis.
22882391 Genetic association of GABA-A receptor alpha-2 and mu opioid receptor with cocaine cue-reactivity: evidence for inhibitory synaptic neurotransmission involvement in cocaine dependence.
22882390 GABRA2 genotype, impulsivity, and body mass.
22555154 2012 Gamma-aminobutyric acid A receptor, ?-2 (GABRA2) variants as individual markers for alcoholism: a meta-analysis.
22501025 2013 GABRA2 markers moderate the subjective effects of alcohol.
22129841 2012 GABRA2 and KIBRA genotypes predict early relapse to substance use.
22047728 2011 Cerebellum volume in high-risk offspring from multiplex alcohol dependence families: association with allelic variation in GABRA2 and BDNF.
21919924 2012 GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.
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.
21683760 2011 Genetic association study of GABRA2 single nucleotide polymorphisms and electroencephalography in alcohol dependence.
21483437 2012 Impulsiveness and insula activation during reward anticipation are associated with genetic variants in GABRA2 in a family sample enriched for alcoholism.
21118274 2011 Role of GABRA2 in moderating subjective responses to alcohol.
20843900 2011 Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
20716301 Obesity, smoking, and frontal brain dysfunction.
20698837 2010 A polymorphism in GABRA2 is associated with the medial frontal response to alcohol cues in an fMRI study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20622020 2010 Complex role of collybistin and gephyrin in GABAA receptor clustering.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
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.
20225194 2010 Analysis of extreme drinking in patients with alcohol dependence using Pareto regression.
20202923 2010 A genome-wide association study of alcohol dependence.
20133874 2010 Cocaine effects on mouse incentive-learning and human addiction are linked to alpha2 subunit-containing GABAA receptors.
20102561 2010 GABRA2 and alcohol use disorders: no evidence of an association in an Italian case-control study.
20048764 2009 GABA receptor subunits in human auditory cortex in normal and stroke cases.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19842164 2009 Association study between GABA receptor genes and anxiety spectrum disorders.
19833324 2010 The influence of GABRA2, childhood trauma, and their interaction on alcohol, heroin, and cocaine dependence.
19783384 2010 Test of association between GABRA2 (SNP rs279871) and adolescent conduct/alcohol use disorders utilizing a sample of clinic referred youth with serious substance and conduct problems, controls and available first degree relatives.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19672139 2009 Role of GABRA2 on risk for alcohol, nicotine, and cannabis dependence in the Iowa Adoption Studies.
19487630 2009 Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring.
19229201 2009 Association of childhood trauma exposure and GABRA2 polymorphisms with risk of posttraumatic stress disorder in adults.
19207358 2009 Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerström Test for Nicotine Dependence.
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.
18821008 2009 GABA(A) receptor downregulation in brains of subjects with autism.
18818659 2009 GABRG1 and GABRA2 as independent predictors for alcoholism in two populations.
18781239 2008 Multiple-domain predictors of problematic alcohol use in young adulthood.
18727688 2008 The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample.
18519829 2008 An autosomal linkage scan for cannabis use disorders in the nicotine addiction genetics project.
18482426 2008 Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study.
18361719 2008 Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the alcohol challenge twin study.
18005236 2008 Human gamma-aminobutyric acid A receptor alpha2 gene moderates the acute effects of alcohol and brain mRNA expression.
17976953 2008 Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4.
17949392 2007 Variation in GABRA2 predicts drinking behavior in project MATCH subjects.
17690794 2007 The role of the GABRA2 polymorphism in multiplex alcohol dependence families with minimal comorbidity: within-family association and linkage analyses.
17655760 2007 Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?
17507911 2008 Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene.
17207817 2008 GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence.
16894595 2006 Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster: candidate gene variants for addictions.
16622805 2006 Association of GABRA2 with drug dependence in the collaborative study of the genetics of alcoholism sample.
16562401 2006 Marital status, alcohol dependence, and GABRA2: evidence for gene-environment correlation and interaction.
16557364 2006 The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages.
16395124 2006 Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16080114 2005 Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
15950776 2005 Alternative splicing and promoter use in the human GABRA2 gene.
15834213 2005 Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15702134 2005 GABRA2 alleles moderate the subjective effects of alcohol, which are attenuated by finasteride.
15274050 2004 Allelic and haplotypic association of GABRA2 with alcohol dependence.
15033447 2004 Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5.
15024690 2004 Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10449790 1999 theta, a novel gamma-aminobutyric acid type A receptor subunit.
10023064 1999 Evolution of GABA(A) receptor diversity in the human genome.
9039914 1997 Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit.
8391122 1993 Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA 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.