Gene Symbol | TCF4 |
Entrez Gene ID | 6925 |
Full Name | transcription factor 4 |
Synonyms | E2-2,FECD3,ITF-2,ITF2,PTHS,SEF-2,SEF2,SEF2-1,SEF2-1A,SEF2-1B,SEF2-1D,TCF-4,bHLHb19 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Pitt-Hopkins syndrome, 610954 (3); Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) |