TCF4

TCF4

Target · Transcription factor

TCF4 Transcription factor 4 · E2-2

TCF4 (transcription factor 4) is a basic helix-loop-helix transcription factor that binds E-box DNA motifs to activate transcription and is involved in the initiation of neuronal differentiation. It is also known as SEF2-1B, ITF2, bHLHb19 and E2-2. Browse Assay Genie's current range of TCF4 research reagents below, or read on for the biology behind the target.

Nuclear proteinBasic helix-loop-helixLinked to Pitt-Hopkins syndrome
667 aa
Protein length
~71 kDa
Molecular weight
18q21.2
Gene locus
bHLH protein
Protein family
Target information

What is TCF4 (transcription factor 4)?

TCF4 is a sequence-specific transcription factor that activates transcription by binding to the E box, the Ephrussi-box motif 5'-CANNTG-3'. This motif was first identified in immunoglobulin enhancers, and TCF4 binds the immunoglobulin enhancer Mu-E5/KE5 motif. It shows a preference for either 5'-ACANNTGT-3' or 5'-CCANNTGG-3' sites. It also binds the E-box within the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription. Functionally, it is involved in the initiation of neuronal differentiation.

The TCF4 gene encodes a member of the basic helix-loop-helix proteins and its product is located in the nucleus. The gene is broadly expressed and may play an important role in nervous system development. Multiple alternatively spliced transcript variants encoding different proteins have been described, so researchers should consider which TCF4 isoforms are relevant to their system. The mouse ortholog is listed as Tcf7l2 and the rat ortholog as Tcf4 in the data used here.

TCF4 is also known as SEF2-1B, ITF2, bHLHb19 and E2-2. Defects in the gene cause Pitt-Hopkins syndrome. In addition, an intronic CTG repeat that normally numbers 10-37 units can expand to more than 50 units and cause Fuchs endothelial corneal dystrophy. These links make TCF4 a relevant target in neurodevelopmental and corneal disease research.

Neuronal differentiation

TCF4 is involved in the initiation of neuronal differentiation, making it a useful target for studying how neuronal programmes are switched on.

Nervous system development

The gene is broadly expressed and may play an important role in nervous system development, which motivates developmental neurobiology studies.

Pitt-Hopkins syndrome research

Defects in TCF4 are a cause of Pitt-Hopkins syndrome, so the protein is central to work on this disorder.

Fuchs corneal dystrophy

An expanded intronic CTG repeat in the TCF4 gene can cause Fuchs endothelial corneal dystrophy, supporting studies of repeat-expansion disease.

Background

TCF4 frequently asked questions

What does TCF4 do?

TCF4 is a nuclear transcription factor that binds E-box motifs (5'-CANNTG-3') and activates transcription. It binds the immunoglobulin enhancer Mu-E5/KE5 motif and the E-box in the SSTR2 initiator element, and it is involved in the initiation of neuronal differentiation.

What other names and isoforms does TCF4 have?

TCF4 is also called SEF2-1B, ITF2, bHLHb19 and E2-2, and its full name is transcription factor 4. Multiple alternatively spliced transcript variants encode different proteins, so a TCF4 antibody or TCF4 ELISA kit may recognise only some isoforms; check the datasheet of any product for its validated reactivity.

Is TCF4 linked to disease?

Yes. Defects in the TCF4 gene cause Pitt-Hopkins syndrome. An intronic CTG repeat, normally 10-37 units, can expand to more than 50 units and cause Fuchs endothelial corneal dystrophy. Orthologs are listed as Tcf7l2 in mouse and Tcf4 in rat.

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Related targets

Other TCF-named transcription factors and related DNA-binding proteins with products at Assay Genie.

Gene and protein annotations from HGNC, NCBI Gene and UniProt P15884; product specifications from Assay Genie datasheets.

TCF4 Product listing