Entrez gene ID | | 6925 |
Official gene symbol | | TCF4 |
Full name | | transcription factor 4 |
Aliases | | ,E2-2,ITF2,MGC149723,MGC149724,PTHS,SEF2,SEF2-1,SEF2-1A,SEF2-1B,bHLHb19, |
Gene summary | | This gene encodes transcription factor 4, a basic helix-turn-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 expressed predominantly in pre-B-cells, although it is found in other tissues as well. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq] |
Location | | Chromosome: 18 Locus: 18q21.1 |
Gene position | | 53255860 - 52889562 Map Viewer |
Gene orientation | | minus |
Gene size | | 366299 bp |
Gene sequence |
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OMIM ID | | 602272 |
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