TCF4

This gene encodes transcription factor 4, a basic helix-turn-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 expressed predominantly in pre-B-cells, although it is found in other tissues as well. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq]

transcription factor 4

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'.

Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process positive regulation of DNA-templated transcriptionIDA:UniProtKB2 Publications
Biological Process positive regulation of neuron differentiationISS:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIISS:BHF-UCLBy Similarity
Biological Process protein-DNA complex assemblyISS:BHF-UCLBy Similarity
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication

Nucleus

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.
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.