Aliases for TCF7L2 Gene
External Ids for TCF7L2 Gene
Previous HGNC Symbols for TCF7L2 Gene
Previous GeneCards Identifiers for TCF7L2 Gene
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
GeneCards Summary for TCF7L2 Gene
TCF7L2 (Transcription Factor 7 Like 2) is a Protein Coding gene. Diseases associated with TCF7L2 include Diabetes Mellitus, Noninsulin-Dependent and Colorectal Cancer. Among its related pathways are phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is TCF7L1.
UniProtKB/Swiss-Prot for TCF7L2 Gene
Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5-CCTTTGATC-3 in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine.