Property Summary

NCBI Gene PubMed Count 21
Grant Count 20
R01 Count 10
Funding $1,989,574.97
PubMed Score 191.91
PubTator Score 41.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.450 0.009
group 3 medulloblastoma -1.100 0.004
ovarian cancer 1.500 0.000

Gene RIF (11)

PMID Text
26690518 The SLC6A12 expression levels in peripheral blood mononuclear cells were significantly higher in TLE patients.
24829506 T40 may be important for the trafficking and insertion of BGT1 in the plasma membrane
22405821 JAK2 is a novel regulator of the GABA transporter BGT1.
21367462 This study found that rs216250 of SLC6A12 was correlated with the Scale for the Assessment of Negative Symptoms (SANS) scores.
20597903 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20597903 Results showed that two polymorphisms and a haplotype in SLC6A12, were significantly associated with AIA after multiple testing corrections.
20424473 Observational study of gene-disease association. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
16198020 BGT-1 is expressed from mRNA and transports GABA in platelets.
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AA Sequence

MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNG      1 - 70
GGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWA     71 - 140
LFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLR    141 - 210
WELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKD    211 - 280
PQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGV    281 - 350
PISEVAESGPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR    351 - 420
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIG    421 - 490
YRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLK    491 - 560
TRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSPTREGLIAGEKETHL                    561 - 614
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Text Mined References (23)

PMID Year Title
26690518 2015 Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy.
25416956 2014 A proteome-scale map of the human interactome network.
24829506 2014 Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress.
24816252 2014 An atlas of genetic influences on human blood metabolites.
23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
22405821 2012 Up-regulation of the betaine/GABA transporter BGT1 by JAK2.
21367462 2011 Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.
20597903 2010 Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population.
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.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
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