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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SLC39A2  -  solute carrier family 39 (zinc...

Homo sapiens

Synonyms: 6A1, ETI-1, Eti-1, Solute carrier family 39 member 2, ZIP-2, ...
 
 
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Disease relevance of SLC39A2

 

High impact information on SLC39A2

  • Extensive linkage disequilibrium and association studies of the four genes indicated that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with OPLL (P=.000003 for the SNP in intron 32 [-29]) [3].
  • All three of these mouse ZIP proteins function to specifically increase the uptake of zinc in transfected cultured cells, similar to the previously demonstrated functions of human ZIP1 and ZIP2 (Gaither, L [4].
  • Effects of intracellular zinc depletion on metallothionein and ZIP2 transporter expression and apoptosis [5].
  • The first clone, isolated from this library by hybridization with a human collagen 6A1 cDNA, was mapped by in situ hybridization to bovine Chromosome some (Chr) 1q12-q14, near the centromere [6].
  • Furthermore, FrZIP2-mediated zinc uptake activity was slightly inhibited by 0.5 mM HCO3-, indicating that FrZIP2 may employ a different mechanism of zinc translocation from the assumed HCO3--coupled zinc transport used by human SLC39A2 [7].
 

Biological context of SLC39A2

  • Differences between 6A and 6A1 alleles include an 11-bp insertion/deletion 407 bases downstream from the start of the translation termination codon and a base pair polymorphism (C or G) in exon 1 (position 1,193; White, Damm, Miller, Spratt, Schilling, Hawgood, Benson, and Cordell. Nature Lond. 317: 361-363, 1985) [8].
 

Anatomical context of SLC39A2

  • We have used the monocytic cell line THP-1 as a model in which to study both the responsiveness of metallothionein and ZIP2 transporter expression to zinc depletion induced by the intracellular zinc chelator TPEN [N,N,N',N'-tetrakis(2-pyridylmethyl) ethylenediamine] and the extent of concomitant apoptosis [5].
 

Analytical, diagnostic and therapeutic context of SLC39A2

  • Analysis of the reverse-transcribed (RT) PCR products from lung mRNAs using 6A specific oligos showed that the 6A1 variant is transcribed [9].

References

  1. Prostate cancer in African American men is associated with downregulation of zinc transporters. Rishi, I., Baidouri, H., Abbasi, J.A., Bullard-Dillard, R., Kajdacsy-Balla, A., Pestaner, J.P., Skacel, M., Tubbs, R., Bagasra, O. Appl. Immunohistochem. Mol. Morphol. (2003) [Pubmed]
  2. COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. Tsukahara, S., Miyazawa, N., Akagawa, H., Forejtova, S., Pavelka, K., Tanaka, T., Toh, S., Tajima, A., Akiyama, I., Inoue, I. Spine. (2005) [Pubmed]
  3. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Tanaka, T., Ikari, K., Furushima, K., Okada, A., Tanaka, H., Furukawa, K., Yoshida, K., Ikeda, T., Ikegawa, S., Hunt, S.C., Takeda, J., Toh, S., Harata, S., Nakajima, T., Inoue, I. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Structure, function, and regulation of a subfamily of mouse zinc transporter genes. Dufner-Beattie, J., Langmade, S.J., Wang, F., Eide, D., Andrews, G.K. J. Biol. Chem. (2003) [Pubmed]
  5. Effects of intracellular zinc depletion on metallothionein and ZIP2 transporter expression and apoptosis. Cao, J., Bobo, J.A., Liuzzi, J.P., Cousins, R.J. J. Leukoc. Biol. (2001) [Pubmed]
  6. Gene mapping from a bovine 1;29 DNA library prepared with chromosome microdissection. Schmutz, S.M., Berryere, T.G., Moker, J.S., Thue, T.D., Winkelman, D.C. Mamm. Genome (1994) [Pubmed]
  7. Functional expression of a low-affinity zinc uptake transporter (FrZIP2) from pufferfish (Takifugu rubripes) in MDCK cells. Qiu, A., Hogstrand, C. Biochem. J. (2005) [Pubmed]
  8. Human SP-A: genotype and single-strand conformation polymorphism analysis. Krizkova, L., Sakthivel, R., Olowe, S.A., Rogan, P.K., Floros, J. Am. J. Physiol. (1994) [Pubmed]
  9. An allelic variant of the 6A gene for human surfactant protein A. Rishi, A., Hatzis, D., McAlmon, K., Floros, J. Am. J. Physiol. (1992) [Pubmed]
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