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

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Gene Review: 

TBL2  -  transducin (beta)-like 2

Homo sapiens

Synonyms: DKFZP43N024, Transducin beta-like protein 2, UNQ563/PRO1125, WBSCR13, WS beta-transducin repeats protein, ...
 
 
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High impact information on TBL2

  • In addition, we identify three novel genes from the common deletion region: WS-betaTRP, WS-bHLH, and BCL7B [1].
  • WS-betaTRP has four putative beta-transducin (WD40) repeats, and WS-bHLH is a novel basic helix-loop-helix leucine zipper (bHLHZip) gene [1].
  • Since haploinsufficiency has been shown for other WD-repeat containing proteins, hemizygosity of TBL2 may contribute to some of the aspects of the complex WBS phenotype [2].
  • The Tbl2 gene has been mapped to mouse chromosome 5 in a region of conserved synteny with human 7q11.23 [2].

References

  1. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng, X., Lu, X., Li, Z., Green, E.D., Massa, H., Trask, B.J., Morris, C.A., Keating, M.T. Hum. Genet. (1998) [Pubmed]
  2. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Pérez Jurado, L.A., Wang, Y.K., Francke, U., Cruces, J. Cytogenet. Cell Genet. (1999) [Pubmed]
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