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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]
[中文简述(自动翻译):]  该基因编码的E蛋白(I类)家族的螺旋 - 环 - 螺旋转录因子的成员。 E蛋白表达是通过结合到靶基因的异源二聚体或同源二聚体调控E盒序列激活转录,并通过与DNA结合(IV级)的抑制剂异二聚体被抑制螺旋 - 环 - 螺旋蛋白。 E蛋白表达在淋巴细胞发挥关键作用,并且需要对B和T淋巴细胞发育所编码的蛋白质。此基因或所编码的蛋白质的活性降低的缺失可能在淋巴恶性肿瘤的作用。这种基因也参与了与淋巴恶性肿瘤包括前B细胞急性淋巴细胞性白血病相关的多个染色体易位(t(下1; 19),具有PBX1),儿童白血病(叔(19; 19),具有TFPT)和急性白血病(T(12; 19),与ZNF384)。另外剪接转录变体编码多种亚型已经观察到这种基因,而这种基因的假基因位于[由RefSeq的,2011年9月提供]的9号染色体短臂
TCF3基因(以及对应的蛋白质)的细胞分布位置:
TCF3基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.134426145 | 16 | 0 | BeFree_CTD_human_LHGDN |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.122442977 | 10 | 0 | BeFree_CTD_human |
| Burkitt Lymphoma | 0.120814326 | 5 | 0 | BeFree_CTD_human |
| Hodgkin Disease | 0.120271442 | 1 | 1 | BeFree_GWASCAT |
| LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 | 0.12 | 0 | 0 | ORPHANET |
| Lymphoma | 0.006263026 | 4 | 0 | BeFree_LHGDN |
| leukemia | 0.004624443 | 8 | 0 | BeFree_LHGDN |
| Acute lymphocytic leukemia | 0.004614512 | 17 | 0 | BeFree |
| Lymphoid leukemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Hypercalcemia | 0.00272435 | 1 | 0 | LHGDN |
| Precursor B-cell lymphoblastic leukemia | 0.001628651 | 6 | 0 | BeFree |
| Colorectal Carcinoma | 0.001085767 | 4 | 2 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.001085767 | 4 | 0 | BeFree |
| Colorectal Cancer | 0.001085767 | 4 | 2 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Fibromatosis, Aggressive | 0.000542884 | 2 | 0 | BeFree |
| T-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Embryonal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Pre B-cell acute lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Embryonal Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Psoriasis | 0.000271442 | 1 | 0 | BeFree |
| Seminoma | 0.000271442 | 1 | 0 | BeFree |
| Sezary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
| Renal fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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