Property Summary

NCBI Gene PubMed Count 57
PubMed Score 114.95
PubTator Score 99.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
interstitial lung disease -2.300 1.5e-02
periodontitis -1.100 6.2e-24
Duchenne muscular dystrophy -1.012 1.2e-03
limb girdle muscular dystrophy 2B -1.097 5.1e-03
adrenocortical carcinoma -1.137 3.6e-03
non-small cell lung cancer -1.284 1.2e-10
intraductal papillary-mucinous adenoma (... -1.300 1.1e-02
lung cancer -1.300 4.2e-04
interstitial cystitis -1.600 2.3e-05
lung adenocarcinoma -1.600 9.6e-09
spina bifida -2.601 3.3e-02
invasive ductal carcinoma 1.200 4.6e-02
pituitary cancer -1.200 7.1e-03
chronic rhinosinusitis -1.973 1.1e-02
cystic fibrosis and chronic rhinosinusit... -1.658 4.9e-02
dermatomyositis 1.600 9.2e-03

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (40)

PMID Text
25707023 A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome.
24771227 Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma.
24520986 the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism
24509276 Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak.
24357267 The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome.
24355766 Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia.
24072090 study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus.
23642734 These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.
23638917 Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient.
23589815 Thiamine transporter 2 deficiency is a recessive disease caused by mutations in the SLC19A3 genes.
23454484 A non-sense mutation SLC19A2 was found in four patients with Thiamine-responsive megaloblastic anemia, indicating its high frequency in Persian population.
23289844 study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia
23285265 Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes.
22876572 Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A.
22369132 Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20466634 Data show that MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19731322 No SLC25A38 mutations were found among sixty CSA probands examined
19536175 Observational study of gene-disease association. (HuGE Navigator)
19423748 Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process.
19340000 findings suggest that the RFC G80A polymorphism may influence outcome in childhood ALL patients being treated with methotrexate
19064610 Observational study of gene-disease association. (HuGE Navigator)
17659067 Three infants with thiamine-responsive megaloblastic anemia were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter.
17463047 THTR1 is involved in thiamine transport by retinal pigment epithelium. Mutations found in thiamine-responsive megaloblastic anemia impaired THTR1 expression/function.
17331069 results show spectrum of mutant phenotypes, underlining that thiamine-responsive megaloblastic anaemia can result from decreased thiamine transport underpinned by changes in THTR1 expression levels, cellular targeting and/or protein transport activity
16705148 Thiamine uptake by HEK-293 cells is mediated via a specific pH-dependent process, which involves both the hTHTR-1 and hTHTR-2.
16373304 We have identified a novel missense mutation (T158R) that was excluded in 100 control alleles.
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
16015585 Three genetic variants of SLC19A2 gene were identified in Wernicke Korsakoff syndrome patients.
15952116 Findings indicate that the RFC1 genotype is a possible susceptible gene marker for an increased neural tube defects risk in Chinese population.
14994241 Missense mutation in the SLC19A2 gene is associated with thiamine-responsive megaloblastic anemia syndrome
14622275 this functional characterization of the D93H mutation of THTR1 provides a molecular basis for Rogers syndrome
14615284 hTHTR-2 is expressed along the human gastrointestinal tract and that expression of its protein in intestinal epithelia is mainly localized to the apical brush-border membrane domain
12900388 the importance of GKLF, NF-1, and SP-1 in regulating the activity of the SLC19A2 promoter
12454006 correlate structure with cellular expression profile and reveal a critical dependence on backbone integrity and microtubule-based trafficking processes for functional expression
12227830 insertion of the thiamine transporter 1 linkers into reduced folate carrier (D215-R263 Delta) at position 215 restored 60-80% of wild-type levels of transport
12065289 the effect of mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on functional activity and membrane expression of the transporter.
11286512 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVF      1 - 70
NEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIA     71 - 140
YYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPM    141 - 210
PQKSLFFHHIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLK    211 - 280
VLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFA    281 - 350
VGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY    351 - 420
ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQS    421 - 490
SSQVTTS                                                                   491 - 497
//

Text Mined References (60)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25707023 2015 Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
24771227 2014 Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development.
24520986 2014 Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
24509276 2014 Genetic implication of a novel thiamine transporter in human hypertension.
24357267 2014 Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
24355766 2014 Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.
24072090 2013 Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
23642734 2013 Up-regulation of vitamin B1 homeostasis genes in breast cancer.
23638917 2014 Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
23589815 2013 Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.
23454484 2013 Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
23289844 2013 Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
23285265 2012 Glucose-induced down regulation of thiamine transporters in the kidney proximal tubular epithelium produces thiamine insufficiency in diabetes.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22876572 2012 Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22369132 2012 Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.
21836059 2011 Tspan-1 interacts with the thiamine transporter-1 in human intestinal epithelial cells and modulates its stability.
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.
20466634 2010 [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women].
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19731322 2010 Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
19536175 2009 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
19423748 2009 Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.
19340000 2009 Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia.
19064610 2009 Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17659067 2007 Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.
17463047 2007 Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.
17331069 2007 Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16705148 2006 Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms.
16373304 2006 Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
16371350 2006 Targeting and trafficking of the human thiamine transporter-2 in epithelial cells.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16055442 2005 Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms.
16015585 2005 Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).
15952116 2005 Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14994241 2004 Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14622275 2003 Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
14615284 2004 Expression and functional contribution of hTHTR-2 in thiamin absorption in human intestine.
12900388 2003 In vitro and in vivo characterization of the minimal promoter region of the human thiamin transporter SLC19A2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12454006 2003 Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.
12227830 2003 Restoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier function.
11286512 2001 Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.
10978358 2000 A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
10874303 2000 The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
10542220 1999 Cloning of the human thiamine transporter, a member of the folate transporter family.
10391223 1999 Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
10391222 1999 The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
10391221 1999 Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
9399900 1997 Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
3060175 1988 Thiamin and the brain.