TCF3
Domain
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition (By similarity). 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 (By similarity). Together with TCF15, required for the mesenchymal to epithelial transition (By similarity). Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (By similarity).
Isoform E47
Facilitates ATOH7 binding to DNA at the consensus sequence 5'-CAGGTG-3', and positively regulates transcriptional activity.
Involvement in disease
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. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family (PubMed:1671560, PubMed:1967983). Translocation t(17;19)(q22;p13.3) with HLF (PubMed:1386162). Inversion inv(19)(p13;q13) with TFPT (PubMed:10086727).
Agammaglobulinemia 8A, autosomal dominant
AGM8A
A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Agammaglobulinemia 8B, autosomal recessive
AGM8B
A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated following NGF stimulation.
Undergoes Notch-induced ubiquitination and subsequent proteasomal degradation which is mediated by ASB1 or ASB2, the substrate-recognition components of probable ECS E3 ubiquitin-protein ligase complexes.
Cellular localization
- Nucleus
Alternative names
BHLHB21, E2A, ITF1, TCF3, Transcription factor E2-alpha, Class B basic helix-loop-helix protein 21, Immunoglobulin enhancer-binding factor E12/E47, Immunoglobulin transcription factor 1, Kappa-E2-binding factor, Transcription factor 3, Transcription factor ITF-1, bHLHb21, TCF-3