MCM2 (minichromosome maintenance complex component 2)
- symbol:
- MCM2
- locus group:
- protein-coding gene
- location:
- 3q21.3
- gene_family:
- alias symbol:
- D3S3194|KIAA0030|BM28|cdc19|DFNA70
- alias name:
- mitotin
- entrez id:
- 4171
- ensembl gene id:
- ENSG00000073111
- ucsc gene id:
- uc003ejp.5
- refseq accession:
- NM_004526
- hgnc_id:
- HGNC:6944
- approved reserved:
- 1993-09-30
MCM2（微小染色体维持蛋白2）是MCM基因家族的重要成员之一，该家族包括MCM2-7六个亚基，共同形成六聚体复合物，作为DNA复制许可因子在细胞周期中发挥核心作用。MCM家族蛋白的共性是参与DNA复制的起始和延伸，确保基因组在细胞分裂前精确复制。MCM2与其他MCM蛋白形成的六聚体复合物在G1期被装载到复制起点，作为解旋酶核心在S期解开DNA双链，为复制叉前进提供动力。MCM2本身具有ATP酶活性，其N端结构域参与蛋白质相互作用，C端则含有保守的AAA+结构域负责能量转化。MCM2的功能异常会导致复制压力、基因组不稳定甚至细胞凋亡。该基因突变与多种癌症密切相关，如乳腺癌、结直肠癌和胶质瘤等，这些突变可能破坏MCM复合物组装或降低解旋酶活性。MCM2过表达常见于快速增殖的肿瘤细胞，可作为细胞增殖标志物，其过表达会导致复制叉停滞和DNA损伤积累，促进肿瘤发生；而敲低MCM2表达则会严重抑制DNA复制，导致细胞周期阻滞在S期甚至引发复制灾难。由于MCM2在增殖细胞中的特异性高表达，它已成为抗癌药物开发的潜在靶点，针对MCM2的小分子抑制剂可选择性杀死快速分裂的癌细胞。此外，MCM2还参与染色质重塑、转录调控等非经典功能，与干细胞维持和细胞重编程相关。在病毒感染过程中，某些病毒如EB病毒会劫持MCM2促进自身基因组复制。MCM2的表达水平受E2F转录因子和Rb蛋白调控，在G0期细胞中几乎不表达，这种严格调控对维持基因组稳定性至关重要。
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
由该基因编码的蛋白是涉及在真核基因组复制的开始时的高度保守的微型染色体维持蛋白（MCM）中的一个。通过MCM蛋白形成的六聚体蛋白复合物是复制前复合物（pre_RC）的一个重要组成部分，并且可以包括在复制叉的形成和在其他DNA复制相关的蛋白质的募集。此蛋白与MCM4，图6和7的复合物，并已被证明以调节复合物的解旋酶活性。这种蛋白质被磷酸化，并因此通过，蛋白激酶CDC2和CDC7调节。多个可变剪接转录物变体已被发现，但一些变体的全长性质尚未定义。 [由RefSeq的，2012年10月提供]
基因本体信息
MCM2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
MCM2基因的本体（GO）信息：
| 名称 |
|---|
| 3030 DNA replication [PATH:hsa03030] |
| 4110 Cell cycle [PATH:hsa04110] |
| 名称 |
|---|
| Activation of ATR in response to replication stress |
| Activation of the pre-replicative complex |
| Assembly of the pre-replicative complex |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| DNA Replication |
| DNA Replication Pre-Initiation |
| DNA strand elongation |
| G1/S Transition |
| G2/M Checkpoints |
| M/G1 Transition |
| Mitotic G1-G1/S phases |
| Orc1 removal from chromatin |
| Regulation of DNA replication |
| Removal of licensing factors from origins |
| S Phase |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| Unwinding of DNA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Colonic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Adenoma | 0.005720142 | 3 | 0 | BeFree_LHGDN |
| Neoplasm Metastasis | 0.0054487 | 2 | 0 | LHGDN |
| Liver carcinoma | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Malignant neoplasm of breast | 0.003181358 | 4 | 0 | BeFree_GAD |
| melanoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Adenocarcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Dysplastic Nevus Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Histiocytoma, Benign Fibrous | 0.00272435 | 1 | 0 | LHGDN |
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