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 factor 3; TCF-3; transcription factor ITF-1 (TCF3, BHLHB21, E2A, ITF1)

Function

• heterodimers between TCF3 & 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
• efficient DNA binding requires dimerization with another bHLH protein
• forms a heterodimer with ASH1 & TWIST2
• isoform E12 interacts with GRIPE & FIGLA (putative)
• interacts with PTF1A & TGFB1I1
• component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 & TCF3 (putative)
• interacts with UBE2I
• phosphorylated following NGF stimulation (putative)

Structure

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

Compartment

nucleus

Alternative splicing

named isoforms=2

Pathology

• 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

More general terms

• basic helix loop helix (bHLH) family transcription factor
• proto oncogene protein

Additional terms

• transcription factor BTF3; RNA polymerase B transcription factor-3 (BTF3, NACB, OK/SW-cl8)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6929
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6929
• OMIM: https://mirror.omim.org/entry/147141
• UniProt: http://www.uniprot.org/uniprot/P15923.html