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

General

DNA-binding protein transcription factor (TF)

Properties

SIZE: entity length = 667 aa MW = 71 kD COMPARTMENT: cell nucleus MOTIF: Essential for MYOD1 inhibition {1-83} serine-rich region {228-231} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S372} leucine zipper SITE: 379-400 FOR-BINDING-VIA: leucine zipper DNA-binding motif SITE: 564-576 helix-loop-helix NAME: helix-loop-helix SITE: 577-618 FOR-BINDING-VIA: helix-loop-helix Class A specific {619-642}

Database Correlations

OMIM 602272 MORBIDMAP 602272 UniProt P15884 Pfam PF00010 Kegg hsa:6925

References

UniProt :accession P15884