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Gene : TCF4 Homo sapiens

Name  ? transcription factor 4 Cytological Location  18q21.2
Brief Description  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]
  • synonyms:
  • OTTHUMG00000132713,
  • NM_003199,
  • class B basic helix-loop-helix protein 19,
  • TCF-4,
  • HGNC:11634,
  • SEF-2,
  • PTHS,
  • FECD3,
  • M74719,
  • SEF2-1,
  • uc002lfz.3,
  • ITF2,
  • E2-2,
  • E2-2,
  • SEF2-1B,
  • SEF2-1A,
  • immunoglobulin transcription factor 2,
  • ITF-2,
  • bHLHb19,
  • SEF2,
  • TCF4,
  • ITF2,
  • SEF2-1D,
  • bHLHb19,
  • SEF2-1B,
  • SL3-3 enhancer factor 2
  • identifiers:
  • 6925,
  • ENSG00000196628,
  • TCF4

Genome feature

Region: gene ? Length: 413663  
Location: 18:55222331-55635993 reverse strand Cyto location: 18q21.2


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Disease

2 Diseases

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55 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results