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Gene Review

TMEM2  -  transmembrane protein 2

Homo sapiens

Synonyms: KIAA1412, Transmembrane protein 2
 
 
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Disease relevance of TMEM2

 

High impact information on TMEM2

  • Fibrocystin-L has extracellular domains similar to fibrocystin with 14 copies of the TIG domain and two regions of significant homology to the protein TMEM2 [2].
  • This beta-catenin-associated expression of AhR and transmembrane protein 2 does not require de novo protein synthesis and may only involve a certain subset of CaP cell lines [3].
  • All DNA variants that segregated with the deafness and changed the predicted amino acid sequence of TMEM2 were common polymorphisms, as demonstrated by allele-specific amplification of pooled control DNA [4].
  • We have determined the cDNA sequence and genomic structure of a novel gene, TMEM2, that maps to this interval and is expressed in the cochlea [4].
  • Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2 [4].
 

Biological context of TMEM2

  • The mouse orthologue of this gene (Tmem2) maps to the murine dn (deafness) locus on mouse chromosome 19 [4].
 

Other interactions of TMEM2

  • We report a novel protein domain-G8-which contains five repeated beta-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins [1].
 

Analytical, diagnostic and therapeutic context of TMEM2

  • Northern blot analysis showed no difference in transcript size or expression level of Tmem2 in dn/dn and control mice [4].

References

  1. G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. He, Q.Y., Liu, X.H., Li, Q., Studholme, D.J., Li, X.W., Liang, S.P. Bioinformatics (2006) [Pubmed]
  2. PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hogan, M.C., Griffin, M.D., Rossetti, S., Torres, V.E., Ward, C.J., Harris, P.C. Hum. Mol. Genet. (2003) [Pubmed]
  3. Identification of aryl hydrocarbon receptor as a putative Wnt/beta-catenin pathway target gene in prostate cancer cells. Chesire, D.R., Dunn, T.A., Ewing, C.M., Luo, J., Isaacs, W.B. Cancer Res. (2004) [Pubmed]
  4. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Scott, D.A., Drury, S., Sundstrom, R.A., Bishop, J., Swiderski, R.E., Carmi, R., Ramesh, A., Elbedour, K., Srikumari Srisailapathy, C.R., Keats, B.J., Sheffield, V.C., Smith, R.J. Gene (2000) [Pubmed]
 
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