Aliases for TCF4 Gene
External Ids for TCF4 Gene
Previous GeneCards Identifiers for TCF4 Gene
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]
GeneCards Summary for TCF4 Gene
TCF4 (Transcription Factor 4) is a Protein Coding gene. Diseases associated with TCF4 include Pitt-Hopkins Syndrome and Corneal Dystrophy, Fuchs Endothelial, 3. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Development of pulmonary dendritic cells and macrophage subsets. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TCF12.
UniProtKB/Swiss-Prot Summary for TCF4 Gene
Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.