{"symbol":"TCF4","synonyms":["ITF2","SEF2-1B","SEF2-1A","SEF2-1","FECD3","ITF-2","SEF-2","SEF2","PTHS","BHLHB19","SEF2-1D","E2-2"],"name":"transcription factor 4","description":"This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box (\u0027E-box\u0027) binding site (\u0027CANNTG\u0027) - 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 \u003e50 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]","ncbiEntrezGeneId":6925,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6925","proteins":[{"symbol":"ITF2_HUMAN","href":"/api/1.0/protein/ITF2_HUMAN"}],"hgncRootFamilies":[{"name":"Basic helix-loop-helix proteins (BHLH)","href":"/api/1.0/gene_family/Basic+helix-loop-helix+proteins+%28BHLH%29"}]}