Gene: TCF3
Alternate names for this Gene: AGM8|E2A|E47|ITF1|TCF-3|VDIR|bHLHb21|p75
Gene Summary: 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 been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9.
Gene is located in Chromosome: 19
Location in Chromosome : 19p13.3
Description of this Gene: transcription factor 3
Type of Gene: protein-coding
rs77866734 in
TCF3 gene and
Bipolar Disorder
PMID 26503763 2016 Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.
rs1860661 in
TCF3 gene and
Hodgkin Disease
PMID 24920014 2014 We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR)=0.81, 95% confidence interval (95% CI) = 0.76-0.86, P(combined) = 3.5 × 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regulator of B- and T-cell lineage commitment known to be involved in HL pathogenesis.