TCF4
GeneName
TCF4
Summary
TCF4, also known as transcription factor 4, TCF-4, or TFE, is a 71 kDa transcription factor that plays a pivotal role in the regulation of gene expression. It is primarily localised in the nucleus, where it forms complexes with beta-catenin, contributing to the transcriptional activation of target genes involved in cell differentiation and nervous system development. TCF4 binds to specific DNA sequences, functioning as a transcription activator for RNA polymerase II, and is involved in the assembly of protein-DNA complexes. Its activity is crucial for the positive regulation of transcription and neuron differentiation.
Importance
TCF4 is relevant to: - Neurodevelopmental disorders, such as Pitt-Hopkins syndrome, due to its role in neuronal differentiation and function - Cancer biology, as it is implicated in the Wnt signalling pathway, affecting cell proliferation and survival - Regulation of metabolic processes through its influence on gene expression in various tissues - Understanding transcriptional regulation mechanisms, particularly in the context of beta-catenin interactions and chromatin dynamics
Top Products
For researchers investigating TCF4, we highly recommend the top-selling recombinant antibody, Anti-TCF-4 antibody [NCI-R159-6] (ab217668). This antibody has been validated for use in a variety of applications, including Western blotting (WB), immunohistochemistry (IHC), chromatin immunoprecipitation (ChIP), and flow cytometry (FC). With 41 citations, it is well-regarded in the research community, demonstrating its reliability and effectiveness in TCF4 detection. This product is an excellent choice for those seeking the consistency and performance that recombinant antibodies offer.
Abcam Product Citation Summary
The data indicates that TCF4 is being studied in various human cancer contexts, specifically in esophageal squamous cell carcinoma and nasopharyngeal carcinoma. Additionally, TCF4 is also being investigated in human pluripotent stem cells, suggesting its relevance in both cancer biology and stem cell research.
Abcam Product Citation Table
Domain
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
Transcription factor that binds to the immunoglobulin enhancer 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 (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.
Involvement in disease
Pitt-Hopkins syndrome
PTHS
A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Fuchs endothelial, 3
FECD3
A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
None
The disease is caused by variants affecting the gene represented in this entry. Causative mutations are heterozygous TCF4 intronic trinucleotide repeat expansions (CTG)n.
Defects in TCF4 may cause autosomal dominant symmetrical acral keratoderma (SAK)syndrome. Symmetrical acral keratodermadefines is characterized by brown/black hyperkeratotic patches symmetrically distributed on the acral regions, especially the wrists, ankles, dorsa of hands, fingers and feet affects young and middle aged men. Patients have epidermis thickened by acanthosis and compact stratum corneum (PubMed:28921696).
Tissue Specificity
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.
Cellular localization
- Nucleus
Alternative names
BHLHB19, ITF2, SEF2, TCF4, Transcription factor 4, TCF-4, Class B basic helix-loop-helix protein 19, Immunoglobulin transcription factor 2, SL3-3 enhancer factor 2, bHLHb19, ITF-2, SEF-2