该基因编码螺旋环螺旋转录因子e蛋白(Ⅰ类)家族的一个成员。e蛋白以异二聚体或同二聚体的形式与靶基因上的调节e-box序列结合,从而激活转录,并被dna结合抑制剂(iv类)螺旋环螺旋蛋白的异二聚体抑制。e蛋白在淋巴细胞生成中起关键作用,其编码蛋白是b淋巴细胞和t淋巴细胞发育所必需的。该基因缺失或编码蛋白活性降低可能在淋巴恶性肿瘤中起作用。该基因还参与一些与淋巴恶性肿瘤相关的染色体易位,包括前b细胞急性淋巴细胞白血病(t(1;19),pbx1,儿童白血病(t(19;19),tfpt)和急性白血病(t(12;19),znf384)。另外,该基因的剪接转录变体编码多种亚型,并且该基因的假基因位于9号染色体的短臂上。[由RefSeq提供,2011年9月]
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]

基因名:TCF3
别名:E2A,E47,p75,AGM8,ITF1,VDIR,TCF-3,bHLHb21
基因ID:6929
Chromosome:
(GRCh37)
19 Start: 1609289 End: 1652328 Strand: 
信号通路:  
TCF3 基因突变与药物

相关基因检测