Property Summary

NCBI Gene PubMed Count 35
Grant Count 24
R01 Count 10
Funding $2,423,525.83
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 0.000
lung cancer -3.300 0.000
colon cancer -2.900 0.000
active Crohn's disease -1.229 0.018
active ulcerative colitis -1.239 0.027
breast carcinoma -1.700 0.007
fibroadenoma -2.600 0.014
lung adenocarcinoma -2.300 0.000
lung carcinoma -3.000 0.000
ductal carcinoma in situ -3.900 0.000
invasive ductal carcinoma -4.400 0.001
ovarian cancer -1.200 0.000

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.
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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.
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