Transducin Beta like Protein 2 (TbL2)

TBL2 encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

TBL2 shares approximately 40% homology with a hypothetical C. elegans protein, suggesting that the gene has been conserved throughout evolution. Northern blot analysis detected a 2.4-kb transcript in all tissues examined, with high expression in heart, brain, placenta, skeletal muscle, and pancreas.Northern blot analysis of human tissues detected not only the 2.4-kb transcript, but an approximately 5-kb transcript which was ubiquitously expressed at lower levels.