E2F3 (E2F transcription factor 3)
- symbol:
- E2F3
- locus group:
- protein-coding gene
- location:
- 6p22.3
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 1871
- ensembl gene id:
- ENSG00000112242
- ucsc gene id:
- uc003nda.3
- refseq accession:
- NM_001243076
- hgnc_id:
- HGNC:3115
- approved reserved:
- 1994-08-31
E2F3是E2F转录因子家族的重要成员之一，该家族在细胞周期调控、增殖、分化和凋亡等过程中发挥核心作用。E2F家族共有8个成员（E2F1-E2F8），分为激活型（E2F1-E2F3a）和抑制型（E2F3b-E2F8）两大类，它们通过结合特定DNA序列调控下游靶基因的表达。E2F3基因位于人类6号染色体上，编码两种主要亚型：E2F3a和E2F3b，由不同启动子驱动产生。E2F3a作为典型的激活型E2F，在G1/S期转换中起关键作用，促进细胞周期相关基因（如Cyclin E、CDC6等）的表达，推动细胞进入S期。而E2F3b则具有抑制功能，参与维持细胞静息状态。E2F3的正常功能依赖于与视网膜母细胞瘤蛋白（pRB）的相互作用，当pRB被CDK磷酸化后释放E2F3，使其激活转录。E2F3突变或表达异常与多种疾病相关，尤其在癌症中表现突出。E2F3过表达常见于膀胱癌、卵巢癌和前列腺癌等恶性肿瘤，导致细胞周期失控和异常增殖，这与E2F3靶基因的持续激活有关。相反，E2F3表达降低可能影响组织发育和再生。E2F3还参与DNA损伤应答，其失调可能增加基因组不稳定性。在神经系统中，E2F3对神经元发育和存活有重要作用，其异常表达与神经退行性疾病相关。E2F家族成员的共同特点是含有保守的DNA结合域和二聚化域，能形成异源二聚体与DP蛋白结合后增强DNA结合能力。由于E2F3在细胞周期中的核心地位，它已成为癌症治疗的潜在靶点，针对E2F3通路的抑制剂正在研发中。
This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
该基因编码一个小家族的转录因子，通过DP相互作用伴侣蛋白绑定功能中的一员。所编码的蛋白质识别的DNA的特定序列基序，并直接与视网膜母细胞瘤蛋白（pRB的）相互作用来调节参与细胞周期的基因的表达。改变的拷贝数和该基因的活性已在许多人癌症中被观察到。有对染色体2，并在多个抄本变形17.选择性剪接结果该基因假。 [由RefSeq的，2013年3月提供]
基因本体信息
E2F3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
E2F3基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5214 Glioma [PATH:hsa05214] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5218 Melanoma [PATH:hsa05218] |
| 5219 Bladder cancer [PATH:hsa05219] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| Assembly of the pre-replicative complex |
| Association of licensing factors with the pre-replicative complex |
| CDC6 association with the ORC:origin complex |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Cyclin D associated events in G1 |
| DNA Replication |
| DNA Replication Pre-Initiation |
| G1 Phase |
| G2 Phase |
| M/G1 Transition |
| Mitotic G1-G1/S phases |
| Mitotic G2-G2/M phases |
| Oncogene Induced Senescence |
| Oxidative Stress Induced Senescence |
| Pre-NOTCH Expression and Processing |
| Pre-NOTCH Transcription and Translation |
| Regulation of DNA replication |
| Signal Transduction |
| Signaling by NOTCH |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Retinoblastoma | 0.009801702 | 6 | 0 | BeFree_LHGDN |
| Bladder Neoplasm | 0.008444493 | 3 | 0 | BeFree_LHGDN |
| Squamous cell carcinoma | 0.005720142 | 2 | 0 | BeFree_LHGDN |
| Adenocarcinoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Ataxia Telangiectasia | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of ovary | 0.002638474 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of prostate | 0.002171535 | 8 | 0 | BeFree |
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