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Gene Review

Slc19a2  -  solute carrier family 19 (thiamine...

Mus musculus

Synonyms: AV276020, AW322295, DDA1, THTR1, TRMA
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Disease relevance of Slc19a2


High impact information on Slc19a2


Biological context of Slc19a2

  • Thus, Slc19a2(-/-) mice have provided new insights into the TRMA disease pathogenesis and will provide a tool for studying the role of thiamin homeostasis in diabetes mellitus more broadly [1].
  • The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of 189 and 1857 bp, respectively [6].
  • The Slc19a2 gene spanned 16.3 kb and was organized into six exons, a gene structure conserved with the human orthologue [6].
  • Comparison of the Slc19a2 amino acid sequence with those of the other known SLC19A solute carriers highlighted interesting patterns of conservation and divergence in various domains, allowing insight into potential structure-function relationships [6].
  • We localized the Slc19a2 gene to mouse chromosome 1, a region syntenic to human chromosome 1q23 that contains the TRMA locus [7].

Anatomical context of Slc19a2

  • Slc19a2 -/- mice on a pure 129/Sv background develop reticulocytopenia after two weeks on thiamine-depleted chow with a virtual absence of reticulocytes in the peripheral blood (0.12% knockout vs. 2.58% wild type, P=0.0079) [3].
  • Contrary to human TRMA syndrome, we see no evidence of megaloblastosis or ringed sideroblasts in the bone marrow of Slc19a2 -/- mice in thiamine-replete or thiamine-deficient dietary states [3].
  • Immunohistochemistry studies indicate that Slc19a2 is expressed on the cell surface and intracellularly, and is specifically localized to a subpopulation of cells in cochlea, small intestine, and pancreas [7].
  • CONCLUSIONS: Taken collectively, these results suggest that the G172D mutation presumably misfolded THTR-1 protein that fails to undergo a complete glycosylation, is retained in the Golgi-ER compartment and thereby cannot be targeted to the plasma membrane [8].
  • RESULTS: The mutant THTR-1 protein was undetectable in transfected cells grown at 37 degrees C but was readily expressed in transfected cells cultured at 28 degrees C, thereby allowing for further biochemical and functional analysis [8].

Associations of Slc19a2 with chemical compounds


Analytical, diagnostic and therapeutic context of Slc19a2

  • Western blot analysis of mouse tissues reveals a wide distribution of Slc19a2 protein [7].
  • The identification of the mouse Slc19a2 cDNA and genomic sequences will facilitate the generation of an animal model of TRMA, permitting future studies of disease pathogenesis [6].


  1. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Oishi, K., Hofmann, S., Diaz, G.A., Brown, T., Manwani, D., Ng, L., Young, R., Vlassara, H., Ioannou, Y.A., Forrest, D., Gelb, B.D. Hum. Mol. Genet. (2002) [Pubmed]
  2. Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Oishi, K., Barchi, M., Au, A.C., Gelb, B.D., Diaz, G.A. Dev. Biol. (2004) [Pubmed]
  3. Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Fleming, J.C., Tartaglini, E., Kawatsuji, R., Yao, D., Fujiwara, Y., Bednarski, J.J., Fleming, M.D., Neufeld, E.J. Mol. Genet. Metab. (2003) [Pubmed]
  4. Identification of a mouse thiamine transporter gene as a direct transcriptional target for p53. Lo, P.K., Chen, J.Y., Tang, P.P., Lin, J., Lin, C.H., Su, L.T., Wu, C.H., Chen, T.L., Yang, Y., Wang, F.F. J. Biol. Chem. (2001) [Pubmed]
  5. Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells. Zhao, R., Gao, F., Goldman, I.D. Am. J. Physiol., Cell Physiol. (2002) [Pubmed]
  6. Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. Oishi, K., Hirai, T., Gelb, B.D., Diaz, G.A. Mol. Genet. Metab. (2001) [Pubmed]
  7. Characterization of a murine high-affinity thiamine transporter, Slc19a2. Fleming, J.C., Steinkamp, M.P., Kawatsuji, R., Tartaglini, E., Pinkus, J.L., Pinkus, G.S., Fleming, M.D., Neufeld, E.J. Mol. Genet. Metab. (2001) [Pubmed]
  8. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Baron, D., Assaraf, Y.G., Cohen, N., Aronheim, A. Mol. Med. (2002) [Pubmed]
  9. Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. Baron, D., Assaraf, Y.G., Drori, S., Aronheim, A. Eur. J. Biochem. (2003) [Pubmed]
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