Property Summary

NCBI Gene PubMed Count 57
Grant Count 39
R01 Count 15
Funding $5,316,056.37
PubMed Score 114.95
PubTator Score 99.63

Knowledge Summary

Patent

No data available

Expression

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.
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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.
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