Rabbit anti-Human TCF4/TCF12 Polyclonal Antibody

Uniprot Id

P15884

Target Species

Human

Target Name

TCF4

Target Full Name

Transcription factor 4

Target 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. Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.

Target Involvement

Pitt-Hopkins syndrome (PTHS); Corneal dystrophy, Fuchs endothelial, 3 (FECD3)

Target Subcellular Location

Nucleus.

Target 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.

Target Synonyms

bHLHb19; Class B basic helix-loop-helix protein 19; E2 2; FECD3; Immunoglobulin transcription factor 2; ITF 2; ITF-2; ITF2; ITF2_HUMAN; MGC149723; MGC149724; PTHS; SEF 2; SEF-2; SEF2 1; SEF2 1A; SEF2 1B; SEF2 1D; SEF2; SL3 3 enhancer factor 2; SL3-3 enhancer factor 2; TCF 4; TCF-4; TCF4; Transcription factor 4; Transcription factor 4, isoform C; Transcription factor 4, isoform D; Transcription factor 4, isoform E; Transcription factor 4, isoform L; Transcription factor 4, isoform M; Transcription factor 4, isoform R

Target Background

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. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described.