Mar 30, 2025 · TCF4 (Transcription Factor 4) is a Protein Coding gene. Diseases associated with TCF4 include Pitt-Hopkins Syndrome and Corneal Dystrophy, Fuchs Endothelial, 3. Among its related pathways are ERK Signaling and Signaling by TGFBR3.

Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q 21.2. [5] TCF4 proteins act as transcription factors which will bind to …

The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Learn about this gene and related health conditions.

Feb 8, 2025 · 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.

The TCF4 gene, also known as ITF2 or PTHS, is located in the 18q21.2 region on chromosome 18 and contains 41 exons. Twenty of these exons are alternative 5′-exons (non-proteincoding exons that are included or excluded from mature mRNA to regulate the expression of longer or shorter protein isoforms), 20 exons are internal protein-coding, and ...

Gene ID: 6925, updated on 8-Feb-2025. 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.

HGNC Approved Gene Symbol: TCF4. Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38) : 18:55,222,185-55,635,957 (from NCBI) TCF4 is a broadly expressed basic helix-loop-helix (bHLH) protein that functions as a homodimer or as a heterodimer with other bHLH proteins. These dimers bind DNA at Ephrussi (E) box sequences.

Feb 8, 2025 · 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.

Here, we consider the structure and functions of the TCF4 transcription factor. We discuss its potential target genes and the possible loss-of-function pathogenetic mechanisms identified in animal and cellular models of Pitt-Hopkins syndrome.

Nov 28, 2023 · Pitt-Hopkins syndrome (PTHS) is an ultra-rare genetic disorder affecting at least 1,286 people worldwide. PTHS is caused by a mutation in the TCF4 gene, which impairs TCF4 protein function, causing a number of negative downstream effects.