Property Summary

NCBI Gene PubMed Count 91
Grant Count 80
R01 Count 18
Funding $18,466,785.62
PubMed Score 85.02
PubTator Score 112.39

Knowledge Summary

Patent (1,605)

TINX Plot

  Disease Relevance (63)

Disease Z-score Confidence
Alcohol dependence 107 6.587 3.3
Conduct disorder 25 4.801 2.4
Cannabis dependence 18 4.212 2.1
Substance abuse 55 3.91 2.0
Wolfram syndrome 11 3.68 1.8
Intermittent explosive disorder 4 3.502 1.8
Antisocial personality disorder 9 3.448 1.7
Acute stress disorder 6 3.161 1.6
Nicotine dependence 53 3.115 1.6
Alcohol withdrawal delirium 9
Alcohol withdrawal syndrome 9
Alcoholic Intoxication, Chronic 41
Anxiety 24
Anxiety Disorders 37
Anxiety associated with Menopause 7
Autistic Disorder 320
Benzodiazepine Induced Sedation 8
Benzodiazepine Maintained Anesthesia 8
Benzodiazepine Toxicity 8
Carcinoma 2,147 1.0
Cocaine-Related Disorders 88
Disorders of initiating and maintaining ... 8 
Epilepsy 346
General anesthesia 53
Generalized anxiety disorder 29
Heroin dependence 30
Induce Anterograde Amnesia 9
Initial insomnia 8
Insomnia 20
Irritable bowel syndrome 59
Local anesthesia 40
Mixed anxiety and depressive disorder 10
Pain with Tension and Anxiety 6
Panic disorder 55
Parkinson's disease 364
Partial Epilepsy Treatment Adjunct 16
Peptic ulcer 22
Pre-Op Apprehension 10
Preoperative Anxiety 9
Sedation 11
Sedation as Adjunct to Anesthesia 15
Sedation in Intubated Patients 8
Severe Insomnia 7
Severe anxiety (panic) 7
Spasticity 26
Status Epilepticus 85
Tetanus 66
Tonic-clonic epilepsy 47
adult high grade glioma 2,148
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
glioblastoma 5,572
group 4 medulloblastoma 1,875
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
pilocytic astrocytoma 3,086
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primitive neuroectodermal tumor 3,031
psoriasis 6,685
subependymal giant cell astrocytoma 2,287
ulcerative colitis 2,087

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytoma -4.800 0.004
posterior fossa group A ependymoma -4.200 0.000
oligodendroglioma -3.800 0.000
glioblastoma -4.800 0.001
group 4 medulloblastoma -4.500 0.000
atypical teratoid / rhabdoid tumor -4.400 0.000
medulloblastoma, large-cell -3.700 0.000
primitive neuroectodermal tumor -3.600 0.001
Parkinson's disease -1.500 0.022
adult high grade glioma -3.800 0.000
pilocytic astrocytoma -4.100 0.000
subependymal giant cell astrocytoma -3.798 0.009
lung carcinoma 1.500 0.000
ulcerative colitis -1.200 0.033
pituitary cancer -1.100 0.000
psoriasis -1.500 0.000

Synonym

Accession P47869 A8K0U7 B7Z1H8 Q59G14
Symbols

Gene

  TechDev Info (1)

Susumu Tomita Biochemical interactoin

Gene RIF (101)

PMID Text
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
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AA Sequence

MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFT      1 - 70
NIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFKGPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMT     71 - 140
MPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAP    141 - 210
DGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVP    211 - 280
ARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVV    281 - 350
NDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM    351 - 420
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.
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