TCF3, BHLHB21, E2A, ITF1, Transcription factor E2-alpha, Class B basic helix-loop-helix protein 21, bHLHb21, Immunoglobulin enhancer-binding factor E12/E47, Immunoglobulin transcription factor 1, Kappa-E2-binding factor, Transcription facto
This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1,19), with PBX1), childhood leukemia (t(19,19), with TFPT) and acute leukemia (t(12,19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have beedisease:Chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1,19)(q23,p13.3) with PBX1, Translocation t(17,19)(q22,p13.3) with HLF. Inversion inv(19)(p13,q13) with TFPT.,function:Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E-box motifs: 5-CANNTG-3. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer.,PTM:Phosphorylated following NGF stimulation.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with ASH1 and TWIST2. Isoform E12 interacts with GRIPE and FIGLA (By similarity). Interacts with PTF1A and TGFB1I1. Component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with UBE2I.,
