TCF7(T-cell factor 7,又称TCF1)是T细胞因子/淋巴增强因子(TCF/LEF)基因家族的重要成员,该家族是一类依赖Wnt信号通路的转录调控因子,其共性是通过与β-catenin(β-连环蛋白)结合调控下游靶基因表达,参与细胞增殖、分化和干细胞维持等过程。TCF7主要在免疫系统(尤其是T细胞)和肠道上皮细胞中表达,其编码蛋白通过形成转录复合物调控T细胞发育的关键阶段,如胸腺细胞从双阴性(DN)向双阳性(DP)阶段分化,并影响CD8+ T细胞的记忆形成和功能维持。该基因的突变或功能缺失会导致T细胞发育阻滞、免疫缺陷,甚至促进自身免疫性疾病或肿瘤发生,例如TCF7缺失的小鼠表现为胸腺萎缩和T细胞减少。在疾病关联方面,TCF7异常表达与多种癌症相关,如在肝细胞癌中低表达可能促进肿瘤侵袭,而在某些淋巴瘤中过表达可能通过激活Wnt通路驱动癌变。当过表达时,TCF7可能增强T细胞抗肿瘤活性或导致自身免疫反应过度;而表达降低则可能削弱免疫监视功能或影响组织再生。TCF7还与其他基因(如LEF1、GATA3)协同调控免疫相关通路,其表达水平变化可能间接影响这些基因的功能网络。专业术语解释:Wnt通路(调控胚胎发育和细胞稳态的信号途径)、β-catenin(参与细胞黏附和基因转录的关键蛋白)、胸腺细胞(T细胞发育的中间阶段细胞)。目前中文常将TCF7与TCF1混用,但需注意TCF1可能指代该基因或其蛋白产物。
The protein encoded by this gene is a transcriptional activator that plays an important role in lymphocyte differentiation. This gene is expressed predominantly in T-cells. The encoded protein can bind an enhancer element and activate the CD3E gene, and it also may repress the CTNNB1 and TCF7L2 genes through a feedback mechanism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
由该基因编码的蛋白质是转录激活,发挥在淋巴细胞分化中起重要作用。该基因是在T细胞中表达。所编码的蛋白质可以结合增强子元件并激活CD3E基因,并且它也可以通过反馈机制抑制的CTNNB1和TCF7L2基因。已发现该基因编码不同亚型的几个抄本变形。 [由RefSeq的,2011年10月提供]
TCF7基因(以及对应的蛋白质)的细胞分布位置:
TCF7基因的本体(GO)信息:
名称 |
---|
4310 Wnt signaling pathway [PATH:hsa04310] |
4390 Hippo signaling pathway [PATH:hsa04390] |
4520 Adherens junction [PATH:hsa04520] |
4916 Melanogenesis [PATH:hsa04916] |
5200 Pathways in cancer [PATH:hsa05200] |
5210 Colorectal cancer [PATH:hsa05210] |
5216 Thyroid cancer [PATH:hsa05216] |
5221 Acute myeloid leukemia [PATH:hsa05221] |
5217 Basal cell carcinoma [PATH:hsa05217] |
5215 Prostate cancer [PATH:hsa05215] |
5213 Endometrial cancer [PATH:hsa05213] |
5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
名称 |
---|
beta-catenin independent WNT signaling |
binding of TCF/LEF:CTNNB1 to target gene promoters |
Ca2+ pathway |
deactivation of the beta-catenin transactivating complex |
Degradation of beta-catenin by the destruction complex |
formation of the beta-catenin:TCF transactivating complex |
repression of WNT target genes |
Signaling by Wnt |
TCF dependent signaling in response to WNT |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Non-Insulin-Dependent | 0.010901282 | 17 | 0 | BeFree_GAD |
Inflammation | 0.007101096 | 3 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.006362715 | 7 | 1 | BeFree_GAD |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
Maturity onset diabetes mellitus in young | 0.002442977 | 9 | 0 | BeFree |
Venous Thromboembolism | 0.002367032 | 1 | 0 | GAD |
Trachoma | 0.002367032 | 1 | 0 | GAD |
Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
Chlamydia Infections | 0.002367032 | 1 | 0 | GAD |
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