TCF4
Function : transcription factor 4
Description : 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. [provided by RefSeq, Jul 2016]
Classification 
| Super Class | Basic domains |
| Class | Basic helix-loop-helix factors (bHLH) |
| Family | E2A-related factors |
| Sub Family | None |
External references
| Ensembl | ENSG00000196628 |
| RefSeq | NP_001335148 |
| Uniprot | P15884 |
| Aliases | E2-2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19 |
| UCSC Gene coordinates | chr18:55222330-55635992 |
External Links
| JASPAR | MA0830.1 |
| Wikipedia | TCF4 |
| WikiGenes | TCF4 |
| Transcription Factor Encylopedia | TCF4 |
| GeneCards | TCF4 |
| FactorBook | TCF4 |
