Property Summary

NCBI Gene PubMed Count 35
PubMed Score 61.25
PubTator Score 64.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
non-small cell lung carcinoma -1.900 1.6e-20
lung cancer -3.300 5.2e-07
colon cancer -2.900 1.8e-06
active Crohn's disease -1.229 1.8e-02
active ulcerative colitis -1.239 2.7e-02
breast carcinoma -1.700 7.1e-03
fibroadenoma -2.600 1.4e-02
lung adenocarcinoma -2.300 2.2e-22
lung carcinoma -3.000 2.2e-20
ductal carcinoma in situ -3.900 2.2e-04
invasive ductal carcinoma -4.400 6.6e-04
ovarian cancer -1.200 2.9e-08

Synonym

Accession Q9BZV2 ThTr-2
Symbols BBGD
THMD2
THTR2

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (26)

PMID Text
26863430 large genomic deletions occur in the regulatory region of SLC19A3 in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
26528626 Species differences in the substrate specificity of THTR-2 between human and mouse orthologues were observed.
24667918 Microarray analysis indicates HIV-1 Tat-induced upregulation of solute carrier family 19, member 3 (SLC19A3) in primary human brain microvascular endothelial cells
24667528 Genetic variation in the SLC19A3 thiamine transporter at 2:228563818T/C may make a modest contribution towards the genetic susceptibility to alcohol dependence syndrome.
24372704 This study provided evidence that biotin-thiamine-responsive basal ganglia disease is the result of SLC19A2 mutation.
24282057 TM4SF4 interacts with hTHTR-2 and influences the physiological function of the thiamine transporter in human intestinal epithelial cells.
23989004 These studies demonstrate that the human intestinal thiamine uptake is adaptively regulated by the extracellular substrate level via transcriptional regulation of the THTR-2 system, and that SP1 transcriptional factor is involved in this regulation.
23482991 A new, severe phenotype of SLC19A3 is identified in early-infantile, lethal encephalopathy characterized by subtotal brain degeneration.
23423671 Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome
23285265 Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes.
22777947 Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia
21789241 These results suggested that aberrant SLC19A3 promoter hypermethylation in plasma may be a novel biomarker for breast and gastric cancer diagnosis.
21176162 these cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments.
20930543 The attenuated increase in SLC19A3 expression after HIF-1alpha knockdown suggests a role for HIF-1alpha mediated pathways regulating SLC19A3 gene expression.
19816091 Results suggest that methylation of SLC19A3 promoter could be a novel biomarker for early gastric cancer development.
19423748 Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process.
17463047 THTR2 is involved in thiamine transport by reginal pigment epithelium.
16790503 hTHTR2 mutants (G23V, T422A) both abrogate thiamine transport activity rather than targeting of hTHTR2 to the cell surface.
16705148 Thiamine uptake by HEK-293 cells is mediated via a specific pH-dependent process, which involves both the hTHTR-1 and hTHTR-2.
16371350 analysis of targeting and trafficking of hTHTR1 and hTHTR2 in epithelial cells
16055442 differentiation of intestinal epithelial cells is associated with an up-regulation in thiamin uptake process which is mediated via transcriptional regulatory mechanisms that involve the SLC19A2 and SLC19A3 genes
15871139 In this segment, each family displayed one of two different missense mutations that altered the coding sequence of SLC19A3, the gene for a transporter related to the reduced-folate (encoded by SLC19A1) and thiamin (encoded by SLC19A2) transporters.
15623830 Expression of SLC19A3 in leukocytes is a relatively sensitive indicator of marginal biotin deficiency.
15328374 One of the genes up-regulated by SLC19A3 protein (THTR2) transfection was down-regulated by thiamine depletion (CYP4B1)
15217784 characterization of the SLC19A3 promoter in vitro and in vivo and demonstrate the importance of an SP1 cis-regulatory element in regulating promoter activity of this important human gene.
12861052 thiamine transporter THTR2 gene expression is down-regulated in breast cancer

AA Sequence

MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPV      1 - 70
FVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVS     71 - 140
GYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKS    141 - 210
SSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFY    211 - 280
WSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALV    281 - 350
VFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTI    351 - 420
MTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNI    421 - 490
IMSTKL                                                                    491 - 496
//

Text Mined References (35)

PMID Year Title
26863430 2016 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
26528626 2015 Metformin Is a Substrate and Inhibitor of the Human Thiamine Transporter, THTR-2 (SLC19A3).
24667528 2014 Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3.
24372704 2014 Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
24282057 2014 Association of TM4SF4 with the human thiamine transporter-2 in intestinal epithelial cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23989004 2013 Adaptive regulation of human intestinal thiamine uptake by extracellular substrate level: a role for THTR-2 transcriptional regulation.
23482991 2013 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
23423671 2013 Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
23285265 2012 Glucose-induced down regulation of thiamine transporters in the kidney proximal tubular epithelium produces thiamine insufficiency in diabetes.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22777947 2012 Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
21789241 2011 Quantitative analysis and diagnostic significance of methylated SLC19A3 DNA in the plasma of breast and gastric cancer patients.
21176162 2010 A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
20930543 2010 Hypoxia induced upregulation and function of the thiamine transporter, SLC19A3 in a breast cancer cell line.
19816091 2009 Promoter hypermethylation mediates downregulation of thiamine receptor SLC19A3 in gastric cancer.
19423748 2009 Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
17463047 2007 Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.
16790503 2006 Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
16705148 2006 Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms.
16371350 2006 Targeting and trafficking of the human thiamine transporter-2 in epithelial cells.
16055442 2005 Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms.
15871139 2005 Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15623830 2005 Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15328374 2004 Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells.
15217784 2004 Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies.
14770311 2004 SLC19: the folate/thiamine transporter family.
12861052 2003 Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11731220 2001 SLC19A3 encodes a second thiamine transporter ThTr2.
11136550 2000 Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes.
3060175 1988 Thiamin and the brain.