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TCF-4

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
  • ITF2
  • BHLHB19
  • TCF4
  • SEF2
  • 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

Target type

Proteins

Primary research area

Oncology

Molecular weight

71795Da

We found 2 products in 1 category

Primary Antibodies

Target

Reactive species

Search our catalogue for 'TCF-4' (2)

Products

ab217668

Anti-TCF-4 antibody [NCI-R159-6]

Recombinant
RabMAb