Property Summary

NCBI Gene PubMed Count 24
PubMed Score 242.53
PubTator Score 33.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -1.200 2.5e-15
glioblastoma -2.500 1.2e-04
oligodendroglioma -1.300 3.4e-13
osteosarcoma 1.065 6.4e-04
posterior fossa group B ependymoma 3.800 1.6e-12
medulloblastoma -2.200 1.2e-04
atypical teratoid / rhabdoid tumor -1.800 9.4e-03
medulloblastoma, large-cell -2.700 2.4e-05
primitive neuroectodermal tumor -1.900 1.1e-03
pediatric high grade glioma -2.100 7.1e-05
Pick disease 1.100 4.0e-02
ovarian cancer 1.500 1.7e-11
psoriasis -1.300 4.6e-09

Gene RIF (12)

PMID Text
25824654 Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters.
24842606 Neurotransmitter transporters including SLC6A6 and SLC6A13 mediate the uptake of 5-aminolevulinic acid (ALA) and can play roles in the enhancement of ALA-induced accumulation of protoporphyrin in cancerous cells.
22932902 Results suggest that gamma-aminobutyric acid transporter 2 GAT-2 is a high selectivity/low affinity transporter.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (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)

AA Sequence

MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAF      1 - 70
FIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQMIVILLNVYYIIVLAWALFYL     71 - 140
FSSFTIDLPWGGCYHEWNTEHCMEFQKTNGSLNGTSENATSPVIEFWERRVLKISDGIQHLGALRWELAL    141 - 210
CLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWM    211 - 280
DAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEV    281 - 350
AESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYPHVFRKKNRREVLI    351 - 420
LGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWP    421 - 490
LIKYCWLFLTPAVCTATFLFSLIKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPF    491 - 560
RERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELESHC                                561 - 602
//

Text Mined References (27)

PMID Year Title
25824654 2015 Evidence for a Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters.
24842606 Neurotransmitter transporter family including SLC6A6 and SLC6A13 contributes to the 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photodamage, through uptake of ALA by cancerous cells.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.
23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
22932902 2012 High selectivity of the ?-aminobutyric acid transporter 2 (GAT-2, SLC6A13) revealed by structure-based approach.
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.
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.
20398908 2010 Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17502375 2007 Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2.
16541075 2006 The finished DNA sequence of human chromosome 12.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16125675 2005 The repertoire of solute carriers of family 6: identification of new human and rodent genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15252450 2004 Lineage-specific gene duplication and loss in human and great ape evolution.
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.
11824941 2001 Sequence and chromosomal assignment of a human novel cDNA: similarity to gamma-aminobutyric acid transporter.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
1400419 1992 Molecular heterogeneity of the gamma-aminobutyric acid (GABA) transport system. Cloning of two novel high affinity GABA transporters from rat brain.