Property Summary

NCBI Gene PubMed Count 81
PubMed Score 30.15
PubTator Score 39.12

Knowledge Summary

Patent (3,978)

TINX Plot

  Disease Relevance (68)

Disease Z-score Confidence
Schizophrenia 501 4.73 2.4
Alcohol dependence 107 3.866 1.9
Heroin dependence 30 3.848 1.9
Bipolar Disorder 266 3.649 1.8
Antisocial personality disorder 9 3.617 1.8
Absence seizure 12
Alcohol withdrawal delirium 9
Alcohol withdrawal syndrome 9
Anxiety 24
Anxiety associated with Menopause 7
Atonic seizure 4
Benign intracranial hypertension 3
Bipolar disorder in remission 19
Carcinoma 2,147 1.0
Cerebral ischemia 12
Conscious sedation 10
Disorders of initiating and maintaining ... 8 
Dysuria 24
Epilepsy 346
Epilepsy characterized by intractable co... 28 
Feeling agitated 7
General anesthesia 53
Generalized anxiety disorder 29
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
Panic disorder 55
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
Seizure disorder 4
Severe Insomnia 7
Severe anxiety (panic) 7
Simple partial seizure 26
Spasticity 26
Status Epilepticus 85
Tetanus 66
Tetanus Adjunct Treatment 8
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urinary Tract Irritation 24
adrenocortical carcinoma 1,427
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
chronic lymphosyte leukemia 232
ependymoma 2,514
glioblastoma 5,572
intraductal papillary-mucinous neoplasm ... 3,289 
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytoma -3.900 0.000
ependymoma -6.500 0.000
oligodendroglioma -4.200 0.000
glioblastoma -6.900 0.000
osteosarcoma 1.259 0.000
chronic lymphosyte leukemia 1.300 0.021
medulloblastoma -5.000 0.000
atypical teratoid / rhabdoid tumor -7.200 0.000
medulloblastoma, large-cell -4.700 0.000
primitive neuroectodermal tumor -4.800 0.001
adrenocortical carcinoma -1.733 0.000
intraductal papillary-mucinous neoplasm ... 1.700 0.003
pediatric high grade glioma -6.100 0.000
pilocytic astrocytoma -4.900 0.000
ovarian cancer -2.300 0.000

Synonym

Gene

  TechDev Info (1)

Susumu Tomita Biochemical interactoin

Gene RIF (65)

PMID Text
26561861 Data show evidence for the schizophrenia candidate gene gamma-aminobutyric acid A receptor beta 2 (GABRB2) to play a role in heroin dependence.
26016529 Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the beta2 subunit affected GABA sensitivity and desensitization.
25241062 Both mRNA and protein of GABAB receptor subunits, GABAB1 and GABAB2, were co-expressed in cultured human RPE cells; GABAB receptors regulate the [Ca2+]i via a pertussis toxin-sensitive Gi/o-protein pathway and a phospholipase C pathway
25124326 Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction.
23917429 This study demonstrates altered patterns of N-glycosylation of GABRB2 in the temporal lobe in schizophrenia.
23638040 These findings revealed that GABRB2 is associated with psychosis, the core symptom and an endophenotype of schizophrenia.
23617850 high expression of GABBR2 with a low expression of GABR(A3) may predict a better outcome in non-small cell lung cancer
23308109 Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators.
23266428 Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse.
23121119 Mutation of GABA receptor beta2 subunit tyrosine residues in the binding pocket shifts the GABA concentration-response curve; GABA binding rates are reduced by mutation to binding pocket tyrosines.
More...

AA Sequence

MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIAS      1 - 70
IDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMI     71 - 140
RLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQF    141 - 210
SIVDYKLITKKVVFSTGSYPRLSLSFKLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGIT    211 - 280
TVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANN    281 - 350
EKMRLDVNKIFYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEA    351 - 420
VMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRW    421 - 490
SRIFFPVVFSFFNIVYWLYYVN                                                    491 - 512
//

Text Mined References (82)

PMID Year Title
26561861 2015 GABRB2 Haplotype Association with Heroin Dependence in Chinese Population.
26016529 2015 Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner.
25241062 2014 GABAB1 and GABAB2 receptor subunits co-expressed in cultured human RPE cells regulate intracellular Ca2+ via Gi/o-protein and phospholipase C pathways.
25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.
23917429 2014 N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia.
23638040 2013 Social cognitive role of schizophrenia candidate gene GABRB2.
23617850 2013 Expression of gamma-aminobutyric acid receptors on neoplastic growth and prediction of prognosis in non-small cell lung cancer.
23308109 2013 A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites.
23266428 2013 Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse.
23121119 2013 Multiple tyrosine residues at the GABA binding pocket influence surface expression and mediate kinetics of the GABAA receptor.
More...