TBL2

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

Full Name

Transducin Beta Like 2

Biological Process

Biological Process cellular response to glucose starvationIMP:ParkinsonsUK-UCL1 Publication
Biological Process cellular response to hypoxiaIMP:ParkinsonsUK-UCL1 Publication
Biological Process endoplasmic reticulum unfolded protein responseIMP:ParkinsonsUK-UCL1 Publication

Cellular Location

endoplasmic reticulum
integral component of endoplasmic reticulum membrane

Involvement in disease

TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.