Property Summary

NCBI Gene PubMed Count 119
Grant Count 22
R01 Count 20
Funding $3,122,211.71
PubMed Score 74.33
PubTator Score 149.17

Knowledge Summary

Patent (1,880)

TINX Plot

  Disease Relevance (79)

Disease Z-score Confidence
Epilepsy 346 5.773 2.9
Alcohol dependence 107 3.011 1.5
Absence Epilepsy 9
Absence seizure 12
Alcohol withdrawal delirium 9
Alcohol withdrawal syndrome 9
Alcoholic Intoxication, Chronic 41
Alcoholism 14
Amphetamine-Related Disorders 74
Anxiety 24
Anxiety associated with Menopause 7
Atonic seizure 4
Benign intracranial hypertension 3
Benzodiazepine Induced Sedation 8
Benzodiazepine Maintained Anesthesia 8
Benzodiazepine Toxicity 8
Bipolar disorder in remission 19
Carcinoma 2,147 1.0
Cerebral ischemia 12
Cocaine-Related Disorders 88
Conscious sedation 10
Disorders of initiating and maintaining ... 8 
Dysuria 24
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBIL... 1 
Epilepsies, Myoclonic 5
Epilepsy characterized by intractable co... 28 
FEBRILE CONVULSIONS, FAMILIAL, 8 1
Febrile Convulsions 11
Feeling agitated 7
GENERALIZED EPILEPSY WITH FEBRILE SEIZUR... 4 
GENERALIZED EPILEPSY WITH FEBRILE SEIZUR... 1 
General anesthesia 53
Generalized anxiety disorder 29
Hepatic encephalopathy 25
Induce Anterograde Amnesia 9
Initial insomnia 8
Insomnia 20
Irritable bowel syndrome 59
Lennox-Gastaut syndrome 34
Local anesthesia 40
Localization-related epilepsy 13
Migraine Prevention 22
Mixed anxiety and depressive disorder 10
Myoclonic seizure 4
Narcoanalysis 3
Pain with Tension and Anxiety 6
Panic disorder 55
Partial Epilepsy Treatment Adjunct 16
Peptic ulcer 22
Pick disease 1,893
Pre-Op Apprehension 10
Preoperative Anxiety 9
Sedation 11
Sedation as Adjunct to Anesthesia 15
Sedation in Intubated Patients 8
Seizure disorder 4
Severe Insomnia 7
Severe anxiety (panic) 7
Simple partial seizure 26
Spasticity 26
Status Epilepticus 85
Tension-type headache 10
Tetanus 66
Tetanus Adjunct Treatment 8
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urinary Tract Irritation 24
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
glioblastoma 5,572
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primitive neuroectodermal tumor 3,031
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (13)

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
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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.
More...