Property Summary

NCBI Gene PubMed Count 31
PubMed Score 8.18
PubTator Score 11.18

Knowledge Summary

Patent (985)

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.300 5.4e-03

Protein-protein Interaction (2)

Gene RIF (21)

PMID Text
20583128 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20436377 Observational study of gene-disease association. (HuGE Navigator)
20398908 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)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19727025 suggestive evidence was found for association between rs8036270 in the GABRG3 gene and exercise participation
19727025 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19598235 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)
19019179 results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus
18516948 Genetic polymorphism of the gene is substantially involving in individual variation of susceptibility to alcohol dependence.
18334916 Observational study of gene-disease association. (HuGE Navigator)
17957331 Observational study of gene-disease association. (HuGE Navigator)
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)
14981720 A daughter who carried the der Y had the clinical features of Prader-Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism.
14745296 There is consistent evidence of association between alcohol dependence and GABRG3: all single-nucleotide polymorphisms across the gene yielded evidence of association, and haplotype analyses were highly significant in alcoholics compared to controls.

AA Sequence

MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDKKLRPDIGIKP      1 - 70
TVIDVDIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNSNMVGLIWIPDTIFRNSKTAE     71 - 140
AHWITTPNQLLRIWNDGKILYTLRLTINAECQLQLHNFPMDEHSCPLIFSSYGYPKEEMIYRWRKNSVEA    141 - 210
ADQKSWRLYQFDFMGLRNTTEIVTTSAGDYVVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKD    211 - 280
ATPARTALGITTVLTMTTLSTIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTK    281 - 350
KTTSLLHPDSSRWIPERISLQAPSNYSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCC    351 - 420
YEECKSGSWRKGRIHIDILELDSYSRVFFPTSFLLFNLVYWVGYLYL                           421 - 467
//

Text Mined References (34)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
22969067 2012 Genetic variants near PDGFRA are associated with corneal curvature in Australians.
20583128 2010 Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20436377 2010 Polymorphisms of candidate genes in Slovak autistic patients.
20398908 2010 Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
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.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19727025 2009 Genome-wide association study of exercise behavior in Dutch and American adults.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
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.
19019179 2009 An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression.
18516948 2008 [Molecular genetics of alcohol dependence].
18334916 2008 Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
17957331 2007 No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.
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.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16080114 2005 Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14981720 2004 Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12).
14745296 2004 Association of GABRG3 with alcohol dependence.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11948245 2002 Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
10891602 2000 Identification and cloning of a gamma 3 subunit splice variant of the human GABA(A) receptor.
10414349 1999 Molecular and functional diversity of the expanding GABA-A receptor gene family.
8719414 1995 Expression and pharmacology of human GABAA receptors containing gamma 3 subunits.
8175718 1994 gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties.
7601451 1995 The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.