Property Summary

NCBI Gene PubMed Count 98
Grant Count 30
R01 Count 26
Funding $5,812,548.39
PubMed Score 130.46
PubTator Score 138.85

Knowledge Summary

Patent (2,715)

TINX Plot

  Disease Relevance (80)

Disease Z-score Confidence
Angelman syndrome 38 6.524 3.3
Prader-Willi syndrome 45 5.65 2.8
Autistic Disorder 320 5.324 2.7
Epilepsy 346 4.417 2.2
Cleft palate 125 3.654 1.8
Childhood disintegrative disease 4 3.558 1.8
Asperger syndrome 35 3.545 1.8
Intellectual disability 573 3.398 1.7
Cleft Lip 91 3.355 1.7
Diaphragmatic eventration 7 3.247 1.6
Atypical autism 25 3.116 1.6
Absence Epilepsy 9
Absence seizure 12
Alcohol withdrawal delirium 9
Alcohol withdrawal syndrome 9
Alcoholism 14
Anxiety 24
Anxiety associated with Menopause 7
Atonic seizure 4
Benzodiazepine Induced Sedation 8
Benzodiazepine Maintained Anesthesia 8
Benzodiazepine Toxicity 8
Carcinoma 2,147 1.0
Cerebral ischemia 12
Child Development Disorders, Pervasive 55
Conscious sedation 10
Craniofacial Abnormalities 147
Disorders of initiating and maintaining ... 8 
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBIL... 1 
Feeling agitated 7
General anesthesia 53
Generalized anxiety disorder 29
Induce Anterograde Amnesia 9
Initial insomnia 8
Insomnia 20
Irritable bowel syndrome 59
Isodicentric Chromosome 15 Syndrome 3
Lennox-Gastaut syndrome 34
Local anesthesia 40
Mixed anxiety and depressive disorder 10
Myoclonic seizure 4
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
Sleep Initiation and Maintenance Disorde... 3 
Spasticity 26
Status Epilepticus 85
Tension-type headache 10
Tetanus 66
Tetanus Adjunct Treatment 8
Tonic-clonic epilepsy 47
active Crohn's disease 918
adult high grade glioma 2,148
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
ependymoma 2,514
gastric carcinoma 832
glioblastoma 5,572
group 4 medulloblastoma 1,875
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous neoplasm ... 3,289 
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
non primary Sjogren syndrome sicca 840
oligodendroglioma 2,849
pilocytic astrocytoma 3,086
pituitary cancer 1,972
primitive neuroectodermal tumor 3,031
psoriasis 6,685

Expression

  Differential Expression (20)

Gene RIF (78)

PMID Text
25211390 1,2-dichlorohexafluorocyclobutane enhancement of GABRA5 activity is abolished by GABRB3 mutations.
25086038 Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR.
25025424 GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence
24865167 Increased GABRB3 expression may confer an increased risk of schizophrenia.
24755890 Findings provide genetic evidence for the involvement of the genes GABRB3 and GABRA5 in the susceptibility to panic disorder
24249596 Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism.
24199598 Data suggest that GABA(A) receptor subunits (alpha-1 and beta-3) are able to form homologous receptors with either delta (extrasynaptic) or gamma-2 subunits (synaptic); allosteric modulation appears similar in the presence of agonist etomidate.
23677991 Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor.
23438326 With a weak association, data do not support the hypothesis that the GABRB3 variants are a cause of nonsyndromic cleft lip and/or palate
22812221 The haplotype of C-A in rs4906902 and rs8179184 loci in the promoter of GABRB3 gene may be maternally inherited and positively associated with schizophrenia.
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AA Sequence

MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIA      1 - 70
SIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRM     71 - 140
IRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQ    141 - 210
FSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGI    211 - 280
TTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAK    281 - 350
NDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS    351 - 420
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN                     421 - 473
//

Text Mined References (100)

PMID Year Title
26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.
25211390 2014 Enhancement of ?5-containing ?-aminobutyric acid type A receptors by the nonimmobilizer 1,2-dichlorohexafluorocyclobutane (F6) is abolished by the ?3(N265M) mutation.
25086038 2014 Multiple propofol-binding sites in a ?-aminobutyric acid type A receptor (GABAAR) identified using a photoreactive propofol analog.
25025424 2014 Association analysis of GABRB3 promoter variants with heroin dependence.
24909990 2014 Crystal structure of a human GABAA receptor.
24865167 2014 Genetic analysis of GABRB3 at 15q12 as a candidate gene of schizophrenia.
24755890 2014 Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
24249596 2014 Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.
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