General Description
Transcription factor 4 or T-Cell Factor-4 (TCF-4), also called as transcription factor 7 like 2 (TCF7L2), is mapped to human chromosome 18q21.1. The gene codes for a basic helix-loop-helix DNA binding protein, which belongs to TCF family and is implicated in transcriptional regulation. It is expressed predominantly in nervous system. TCF4 protein has a transcriptional activation domain 2 (AD2), a transcriptional activation domain (AD1) and a nuclear localization signal (NLS) in the N-terminal end and a C-terminal basic helix-loop-helix (bHLH) domain, involved in dimerization and deoxyribonucleic acid (DNA) binding.
Biochem/physiol Actions
Transcription factor 4 (TCF-4) interacts functionally with β-catenin to mediate Wnt signaling pathway and transactivates downstream target genes implicated in cancer development. TCF-4 plays a vital role in development of the nervous system and vertebrate development. Aberrations or mutation of the gene leads to Pitt-Hopkins syndrome (PTHS), a rare developmental disorder characterized by severe motor and mental retardation, typical facial features and breathing abnormalities.
