Transcription Factor 4 (TCF4) Human Recombinant Protein

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

TCF4: Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription. Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2. Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 18q21.2

Cellular Component: nuclear chromatin; nucleus; transcription factor complex

Molecular Function: bHLH transcription factor binding; DNA binding; identical protein binding; protein binding; protein C-terminus binding; protein heterodimerization activity; protein homodimerization activity; transcription factor activity

Biological Process: positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein-DNA complex assembly; transcription initiation; transcription initiation from RNA polymerase II promoter

Disease: Corneal Dystrophy, Fuchs Endothelial, 3; Pitt-hopkins Syndrome