Property Summary

NCBI Gene PubMed Count 17
PubMed Score 163.73
PubTator Score 19.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
glioblastoma -1.200 7.7e-03
group 4 medulloblastoma -2.600 3.6e-06
atypical teratoid/rhabdoid tumor -2.200 1.2e-07
medulloblastoma, large-cell -1.800 1.2e-04
pediatric high grade glioma -1.200 4.4e-02
non primary Sjogren syndrome sicca -1.400 2.3e-02

Gene RIF (11)

PMID Text
26212582 GABA-transporter 3 was reduced by about 62% in severe hippocampal sclerosis samples
25256099 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
23795861 results suggest that GABA receptor signaling pathway was associated with the increased susceptibility to TD in Korean schizophrenic patients
23225341 Binding assays employing membrane preparations obtained from a stably GAT3 expressing HEK293 cell line and DDPM-1007 as nonlabeled GAT3 marker were performed. In these experiments specific binding of DDPM-1007 at GAT3 could be unambiguously detected.
21776001 The results suggest that GAT3 c.1572T may be one of the contributing factors with a modest effect on antiepileptic drug (AEDs) pharmacoresistance in the epileptic brain.
20424473 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)
19450549 homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations.
19086053 Observational study of gene-disease association. (HuGE Navigator)
18334916 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MTAEKALPLGNGKAAEEARESEAPGGGCSSGGAAPARHPRVKRDKAVHERGHWNNKVEFVLSVAGEIIGL      1 - 70
GNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGITCWRKVCPLFEGIGYATQVIE     71 - 140
AHLNVYYIIILAWAIFYLSNCFTTELPWATCGHEWNTENCVEFQKLNVSNYSHVSLQNATSPVMEFWEHR    141 - 210
VLAISDGIEHIGNLRWELALCLLAAWTICYFCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASE    211 - 280
GIKFYLYPDLSRLSDPQVWVDAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGF    281 - 350
AIFSVLGFMAYEQGVPIAEVAESGPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVT    351 - 420
AVVDMYPKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVAIFECICIGWV    421 - 490
YGSNRFYDNIEDMIGYRPPSLIKWCWMIMTPGICAGIFIFFLIKYKPLKYNNIYTYPAWGYGIGWLMALS    491 - 560
SMLCIPLWICITVWKTEGTLPEKLQKLTTPSTDLKMRGKLGVSPRMVTVNDCDAKLKSDGTIAAITEKET    561 - 630
HF                                                                        631 - 632
//

Text Mined References (19)

PMID Year Title
26212582 2015 Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.
25256099 2014 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
25221879 2014 Genome-wide interrogation of longitudinal FEV1 in children with asthma.
23795861 2014 Gaba transporter SLC6A11 gene polymorphism associated with tardive dyskinesia.
23225341 2013 Development and validation of an LC-ESI-MS/MS quantification method for a potential ?-aminobutyric acid transporter 3 (GAT3) marker and its application in preliminary MS binding assays.
22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
21776001 2011 Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
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.
19450549 2009 Substrate-Na+ complex formation: coupling mechanism for gamma-aminobutyrate symporters.
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.
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.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
7874447 1994 Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site.
1400419 1992 Molecular heterogeneity of the gamma-aminobutyric acid (GABA) transport system. Cloning of two novel high affinity GABA transporters from rat brain.