TCF4, Official Symbol TCF4provided by HGNC Official Full Name transcription factor 4provided by HGNC Primary source HGNC:HGNC:11634 See related Ensembl:ENSG00000196628 MIM:602272; AllianceGenome:HGNC:11634 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E2-2; FCD2; ITF2; PTHS; SEF2; CDG2T; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19 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] Annotation information Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019] Expression Ubiquitous expression in brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues See more Orthologs mouse all