Gene: SLC19A2

Alternate names for this Gene: TC1|THMD1|THT1|THTR1|TRMA

Gene Summary: This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: solute carrier family 19 member 2

Type of Gene: protein-coding

rs2038024 in SLC19A2 gene and Activated Protein C Resistance PMID 23188048 2013 A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

rs1983546 in SLC19A2 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs28937595 in SLC19A2 gene and Thiamine responsive megaloblastic anemia syndrome PMID 10391221 1999 Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

PMID 10874303 2000 The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

PMID 19643445 2009 Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

PMID 12435857 2002 Using transient expression of wild-type and a missense mutant THTR-1 protein, derived from a TRMA family, in different cell lines and immunodetection analysis, we determined the expression, posttranslational modification, and subcellular localization of the wild-type and G172D mutant THTR-1.

PMID 17132746 2006 Thiamine transporter mutation: an example of monogenic diabetes mellitus.

PMID 12065289 2002 Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.

PMID 17463047 2007 Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.

rs2038024 in SLC19A2 gene and Venous Thromboembolism PMID 22672568 2012 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

rs2678166 in SLC19A2 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.