transcription factor ITF-2; SL3-3 enhancer factor 2; transcription factor 4; immunoglobulin transcription factor 2 (ITF2, TCF4, SEF2)

Function

• transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif
• binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (putative)
• preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'
• efficient DNA binding requires dimerization with another bHLH protein
• forms homo- or heterooligomers with myogenin
  • interacts with HIVEP2 (putative)

Structure

contains 1 basic helix-loop-helix (bHLH) domain

Compartment

nucleus (probable)

Alternative splicing

named isoforms=3

Expression

• expressed in adult heart, brain, placenta, skeletal muscle > lung
• in developing embryonic tissues, expression mostly occurs in brain

Pathology

• haploinsufficiency of TCF4 is a cause of Pitt-Hopkins syndrome

More general terms

• DNA-binding protein
• transcription factor (TF)

Database

• UniProt: http://www.uniprot.org/uniprot/P15884.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6925
• OMIM: https://mirror.omim.org/entry/602272