E2F4 (E2F transcription factor 4)
- symbol:
- E2F4
- locus group:
- protein-coding gene
- location:
- 16q22.1
- gene_family:
- alias symbol:
- E2F-4
- alias name:
- None
- entrez id:
- 1874
- ensembl gene id:
- ENSG00000205250
- ucsc gene id:
- uc002erz.4
- refseq accession:
- NM_001950
- hgnc_id:
- HGNC:3118
- approved reserved:
- 1995-02-01
The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是E2F家族转录因子的成员。的E2F家族在肿瘤抑制蛋白的细胞周期和动作的控制的关键作用，也是小的DNA肿瘤病毒转化的蛋白质的靶。该E2F蛋白含有在家族的大部分成员发现了一些进化上保守结构域。这些域包括一个DNA结合结构域，其中确定与该分化调节转录因子的蛋白质（DP），在酸性氨基酸富集的一个激活结构域相互作用二聚化结构域，并且其中已经被嵌入所述激活域内的肿瘤抑制蛋白相关结构域。此蛋白结合所有三种肿瘤抑制蛋白的pRB，P107和P130，但具有到最后两个更高的亲和力。它在细胞增殖相关基因的抑制中起重要作用，并且其基因突变和增加的表达可以与人类癌症有关。 [由RefSeq的，2008年7月提供]
基因本体信息
E2F4基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
E2F4基因的本体（GO）信息：
| 名称 |
|---|
| 4350 TGF-beta signaling pathway [PATH:hsa04350] |
| 4110 Cell cycle [PATH:hsa04110] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cyclin D associated events in G1 |
| G0 and Early G1 |
| G1 Phase |
| Gene Expression |
| Generic Transcription Pathway |
| Mitotic G1-G1/S phases |
| Signal Transduction |
| Signaling by TGF-beta Receptor Complex |
| SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
| Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Macrocytosis, Familial | 0.08 | 0 | 0 | MGD |
| OTITIS MEDIA, SUSCEPTIBILITY TO (finding) | 0.08 | 0 | 0 | MGD |
| Colorectal Neoplasms | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Malignant neoplasm of ovary | 0.002638474 | 2 | 0 | BeFree_GAD |
| Coronary heart disease | 0.002367032 | 1 | 1 | GAD |
| Breast Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Colorectal Cancer | 0.001628651 | 6 | 0 | BeFree |
| Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
| Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
| Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
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