更多...
收起
This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
[中文简述(自动翻译):]  该基因编码能结合在基因的启动子MUE3型E盒序列的碱性螺旋 - 环 - 螺旋结构域的转录因子。所编码的蛋白质促进转化生长因子β(TGF-β)信号的下游基因的表达。该基因可能参与在肾细胞癌和其他癌症染色体易位,导致生产融合蛋白。易位合作伙伴包括PRCC(乳头状肾细胞癌),NONO(含,八聚体结合非POU域),以及ASPSCR1(腺泡状软组织肉瘤染色体区域,候选1),其他基因。选择性剪接结果在多个抄本变形。 [由RefSeq的,2013年8月提供]
TFE3基因(以及对应的蛋白质)的细胞分布位置:
TFE3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Renal Cell Carcinoma | 0.148249818 | 85 | 0 | BeFree_CTD_human_LHGDN |
Alveolar Soft Part Sarcoma | 0.127057489 | 26 | 0 | BeFree_ORPHANET |
Epithelioid hemangioendothelioma | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
RENAL CELL CARCINOMA, Xp11-ASSOCIATED | 0.12 | 0 | 0 | ORPHANET |
Perivascular Epithelioid Cell Neoplasms | 0.005710211 | 12 | 0 | BeFree_LHGDN |
Renal carcinoma | 0.005428837 | 20 | 0 | BeFree |
Sarcoma | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Kidney Neoplasm | 0.003528744 | 13 | 0 | BeFree |
Malignant neoplasm of kidney | 0.002171535 | 8 | 0 | BeFree |
Papillary Renal Cell Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Microphthalmos | 0.001085767 | 4 | 0 | BeFree |
Diabetes | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Epithelioid hemangioendothelioma, malignant | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Childhood Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Clear-cell metastatic renal cell carcinoma | 0.000814326 | 3 | 0 | BeFree |
Sarcoma, Clear Cell | 0.000542884 | 2 | 0 | BeFree |
Metastatic Renal Cell Cancer | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenoid Cystic Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hemangiosarcoma | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteopetrosis | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Wiskott-Aldrich Syndrome | 0.000271442 | 1 | 0 | BeFree |
Granular cell tumor | 0.000271442 | 1 | 0 | BeFree |
Acute appendicitis NOS (disorder) | 0.000271442 | 1 | 0 | BeFree |
Mesoblastic Nephroma | 0.000271442 | 1 | 0 | BeFree |
Retinal damage | 0.000271442 | 1 | 0 | BeFree |
Vascular Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Adrenal neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Histiocytoma, Angiomatoid Fibrous | 0.000271442 | 1 | 0 | BeFree |
Congenital Mesoblastic Nephroma | 0.000271442 | 1 | 0 | BeFree |
Radiation-Related Angiosarcoma | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。