Entrez Gene ID | 6929 |
---|---|
Official Gene Symbol | TCF3 (GeneCards) |
Full name | transcription factor 3 |
Location | 19p13.3 |
Other ids | Vega : OTTHUMG00000180031 MIM : 147141 HGNC : HGNC:11633 Ensembl : ENSG00000071564 |
Other names | E2A, E47, p75, AGM8, ITF1, VDIR, TCF-3, bHLHb21 |
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. [provided by RefSeq, Sep 2011] |
Found 11 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
901 | 6929 | TCF3 | 19 | 1622131 | 1622131 | Human Skin Fibroblasts | HiSeq 2500 |
28437 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28439 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28449 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28454 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28471 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28474 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28478 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28480 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28481 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
28487 | 6929 | TCF3 | 19 | 1740050 | 1740050 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |