Property Summary

NCBI Gene PubMed Count 42
PubMed Score 32.66
PubTator Score 34.56

Knowledge Summary

Patent (1,273)

TINX Plot

  Disease (4)

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -4.500 6.3e-05
ependymoma -3.400 3.7e-02
oligodendroglioma -4.500 2.9e-24
glioblastoma multiforme -4.700 5.0e-36
medulloblastoma -3.600 3.3e-03
atypical teratoid / rhabdoid tumor -2.600 8.3e-03
medulloblastoma, large-cell 1.700 3.4e-02
primitive neuroectodermal tumor -3.400 2.9e-02
Hydrolethalus syndrome -2.421 2.2e-02
adult high grade glioma -3.500 1.5e-02
pilocytic astrocytoma -4.000 1.8e-04
Breast cancer -3.000 1.3e-02
Pick disease -2.400 1.4e-02

Protein-protein Interaction (7)

Gene RIF (32)

PMID Text
26169564 Report benzodiazepine derivative as GABA-site inhibitor of extra-synaptic GABAA alpha5 receptors.
25663431 Study found that a significant portion of GABAergic postsynaptic compartments contain the alpha5 GABAAR subunit, both in vitro and in vivo
25660468 This study showed that in male groups, the expression of GABRA5 was generally lower in schizophrenia cases compared to the control.
25613138 The gene expression of gamma-aminobutyric acid A receptor alpha 5 subunit is significantly upregulated in clade B Tat treated SK-N-MC neuroblastoma cells
25211390 1,2-dichlorohexafluorocyclobutane enhancement of GABRA5 activity is abolished by GABRB3 mutations.
24755890 Findings provide genetic evidence for the involvement of the genes GABRB3 and GABRA5 in the susceptibility to panic disorder
24227714 The alpha5 nicotinic receptor GABAergic neurons form a link from the medial habenula to the serotonergic brain centers.
22546616 These results provide initial evidence of a GABAA alpha5 deficit in autism spectrum disorder and support further investigations of the GABA system in this disorder.
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.
20843900 In subjects with schizophrenia, mean GABA (A) alpha5 rerceptor subunit mRNA expression is 15% lower in layer 4 of the dorsolateral prefrontal cortex.
20692323 The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19328558 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19078961 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
17957331 Observational study of gene-disease association. (HuGE Navigator)
17680603 Observational study of gene-disease association. (HuGE Navigator)
17580321 Observational study of gene-disease association. (HuGE Navigator)
17353214 GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder; observations suggest parent-of-origin and gain-of-function effects
16674551 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16080114 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15882799 Observational study of gene-disease association. (HuGE Navigator)
15882799 These results suggest that the GABRA5 gene may confer susceptibility to bipolar I disorder.
15033447 extracellular domain models show subunit arrangement of GABA-A receptors
12048673 Observational study of gene-disease association. (HuGE Navigator)
11378843 Observational study of gene-disease association. (HuGE Navigator)
11287792 Observational study of gene-disease association. (HuGE Navigator)
11140838 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

AA Sequence

MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGE      1 - 70
RITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKK     71 - 140
SIAHNMTTPNKLLRLEDDGTLLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGST    141 - 210
KSVVVAEDGSRLNQYHLMGQTVGTENISTSTGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFW    211 - 280
LNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWA    281 - 350
WDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYN    351 - 420
SISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK                                421 - 462
//

Text Mined References (43)

PMID Year Title
26169564 2015 A novel GABA(A) alpha 5 receptor inhibitor with therapeutic potential.
25663431 2015 Synaptic localization of ?5 GABA (A) receptors via gephyrin interaction regulates dendritic outgrowth and spine maturation.
25660468 2015 Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
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.
24755890 2014 Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.
24227714 2013 Medial habenula output circuit mediated by ?5 nicotinic receptor-expressing GABAergic neurons in the interpeduncular nucleus.
22546616 2013 The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
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.
20843900 2011 Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
20692323 2010 Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19328558 2009 Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19078961 2010 Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
17957331 2007 No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.
17680603 2008 Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.
17580321 2008 No association of migraine to the GABA-A receptor complex on chromosome 15.
17370265 2007 Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry.
17353214 2007 GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism.
16674551 2006 An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16080114 2005 Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
15882799 2005 The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15033447 2004 Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12048673 2002 [Case-control study and transmission/disequilibrium test of childhood absence epilepsy].
11378843 2001 GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.
11287792 2001 Association between GABA-A receptor alpha 5 subunit gene locus and schizophrenia of a later age of onset.
11140838 2000 A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.
9668167 1998 A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.
9205108 1997 Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region.
9126483 1997 Structure and organization of GABRB3 and GABRA5.
8388764 1993 FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.
7851879 1994 Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform.
1338907 1992 Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.
1321750 1992 Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit.