Property Summary

NCBI Gene PubMed Count 49
PubMed Score 21.49
PubTator Score 21.29

Knowledge Summary

Patent (1,424)

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytoma -1.300 8.7e-08
glioblastoma -4.800 7.0e-06
oligodendroglioma -1.400 1.7e-05
posterior fossa group A ependymoma -4.700 5.5e-15
group 4 medulloblastoma -3.700 1.1e-08
atypical teratoid / rhabdoid tumor -4.900 1.2e-06
medulloblastoma, large-cell -5.100 3.3e-06
primitive neuroectodermal tumor -3.100 8.1e-03
pediatric high grade glioma -4.100 3.4e-07
pilocytic astrocytoma -2.800 1.8e-04
lung carcinoma 2.300 1.1e-16
progressive supranuclear palsy 1.100 4.9e-03
ovarian cancer -1.300 5.2e-07
pituitary cancer -2.800 4.2e-04

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (27)

PMID Text
25660468 This study showed that in male group the expression of GABRB1 was generally lower in schizophrenia cases compared to the control, but was higher in female group.
25566775 PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol
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
25192656 study provides the first evidence for the involvement of the GABRB1 gene in the thalamus structure and their interactive effects on intelligence
24022508 GABRB1 protein levels were significantly decreased in schizophrenia, major depressive disorder, and bipolar disorder patients' lateral cerebellum compared to controls.
23917429 This study demonstrates altered patterns of N-glycosylation of GABRB1 in the temporal lobe in schizophrenia.
23392927 These results suggest that epigenetic control of gene expression may affect the expression of GABRB1 and disrupt inhibitory synaptic transmission during embryonic development.
22393585 In cases of tramadol-induced death, the expression of GABA(A)alpha1 and GABA(B)1 significantly increased in the medulla oblongata solitary nucleus and ambiguous nucleus.
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.
20848605 Gaba-A receptor subunit beta1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy.
20843900 Gaba (A) beta1 and beta3 subunit mRNA levels in the dorsolateral prefrontal cortex are not altered in schizophrenia.
20468064 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19567891 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19078961 Observational study of gene-disease association. (HuGE Navigator)
18650446 three distinct sets of amino acid residues in the N-terminal extracellular domain of the hbeta1 subunit, which when mutated to the homologous residue in hbeta3 allow expression as a functional homomeric receptor
18281286 histamine modulates heteromultimeric GABA(A) receptors and may thus represent an endogenous ligand for an allosteric site
17655760 Observational study of gene-disease association. (HuGE Navigator)
16800828 Observational study of gene-disease association. (HuGE Navigator)
16770606 These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.
16278087 Observational study of gene-disease association. (HuGE Navigator)
15337300 A signal for GABA A beta 1 isoform mRNA transcript could not be detected in the competitive RT-PCR assay.
12601092 Observational study of gene-disease association. (HuGE Navigator)
11891318 linkage disequilibrium between beta frequency of EEG and a set of GABA(A) receptor genes
11324945 Observational study of gene-disease association. (HuGE Navigator)
11140838 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

AA Sequence

MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVA      1 - 70
SIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRM     71 - 140
IRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQ    141 - 210
FSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGI    211 - 280
TTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANE    281 - 350
KNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR    351 - 420
HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH                    421 - 474
//

Text Mined References (50)

PMID Year Title
26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.
25660468 2015 Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
25566775 2015 PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol.
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.
25192656 2014 The GABRB1 gene is associated with thalamus volume and modulates the association between thalamus volume and intelligence.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
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.
23917429 2014 N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia.
23392927 2013 The effect of folic acid on GABA(A)-B 1 receptor subunit.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22393585 2011 [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication].
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.
20848605 2012 Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy.
20843900 2011 Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19567891 2009 Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
19078961 2010 Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
18650446 2008 Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors.
18281286 2008 Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses.
17655760 2007 Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?
16800828 2006 The polymorphism GABABR1 T1974C[rs29230] of the GABAB receptor gene is not associated with the diagnosis of alcoholism or alcohol withdrawal seizures.
16770606 2006 Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
16278087 2005 Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15337300 2004 GABAA receptor beta subunit mRNA expression in the human alcoholic brain.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12601092 2003 GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
12595241 2003 A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11606067 2001 Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein.
11350968 2001 Interaction between GABA(A) receptor beta subunits and the multifunctional protein gC1q-R.
11324945 2000 Exonic variants of the GABA(B) receptor gene and panic disorder.
11140838 2000 A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.
11085308 2000 Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex.
10900018 2000 An initiator element mediates autologous downregulation of the human type A gamma -aminobutyric acid receptor beta 1 subunit gene.
10449790 1999 theta, a novel gamma-aminobutyric acid type A receptor subunit.
10195104 1998 Adjacent phosphorylation sites on GABAA receptor beta subunits determine regulation by cAMP-dependent protein kinase.
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.
8178835 1994 Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
2465923 1989 Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits.
2160058 1990 Differential expression of gamma-aminobutyric acidA receptor subunits.
1655634 1991 Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1).
1652891 1991 Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism.
1323140 1992 Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation.
1321150 1992 Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor.