Target intelligence / Profile preview

Transcription Factor 4 (TCF4)

Target
TCF4
Molecular classification
Transcription factor, Basic helix-loop-helix transcription factor, E-protein
01

Overview

Transcription Factor 4 (TCF4), also known as Immunoglobulin Transcription Factor 2 (ITF-2), is a protein encoded by the TCF4 gene. It is a member of the class I basic helix–loop–helix (bHLH) family of transcription factors, commonly referred to as E-proteins. TCF4 regulates gene expression by binding to E-box sequences and is critical for neurodevelopment, cell differentiation, and apoptosis. Mutations in TCF4 are associated with Pitt-Hopkins Syndrome.

Other names
Immunoglobulin Transcription Factor 2ITF-2
02

Mechanism of action

TCF4 acts as a transcription factor that binds to E-box sequences (5'-CANNTG-3') in DNA, regulating gene expression by forming homo- or heterodimers with other bHLH proteins.

03

Biological functions

Transcription regulationNeurodevelopmentCell differentiationApoptosisRegulation of epithelial-mesenchymal transitionImmune cell development
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Disease associations

Pitt-Hopkins SyndromeDistal 18q deletion syndromeNeurodevelopmental disorders
05

Safety considerations

Mutations in TCF4 can lead to severe neurodevelopmental disorders like Pitt-Hopkins Syndrome.Loss-of-function can lead to reduced Wnt signaling pathways impacting neural progenitor proliferation.

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