ORC2 (origin recognition complex subunit 2)
- symbol:
- ORC2
- locus group:
- protein-coding gene
- location:
- 2q33.1
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 4999
- ensembl gene id:
- ENSG00000115942
- ucsc gene id:
- uc002uwr.4
- refseq accession:
- NM_006190
- hgnc_id:
- HGNC:8488
- approved reserved:
- 1995-09-28
ORC2（Origin Recognition Complex Subunit 2）是起源识别复合体（ORC）的关键组成部分，属于ORC基因家族。ORC家族由六个亚基（ORC1-6）组成，共同参与DNA复制的起始过程，在细胞周期中确保基因组精确复制。ORC2与其他亚基协同作用，识别并结合DNA复制起点（复制起始位点），为后续复制前复合体（pre-RC）的组装提供支架，从而启动DNA复制。ORC2的生物学功能主要体现在维持基因组稳定性，其表达水平与细胞增殖密切相关。若ORC2发生功能丧失性突变，可能导致复制起始缺陷、细胞周期阻滞或基因组不稳定性，进而引发发育异常或癌症。例如，ORC2突变与Meier-Gorlin综合征（一种以侏儒症、小头畸形和骨骼异常为特征的罕见病）相关。此外，ORC2表达异常（如过表达）可能通过促进不受控的DNA复制参与肿瘤发生，而低表达则可能导致复制压力或细胞衰老。ORC2还与其他基因相互作用，如与CDC6和MCM复合体协同调控复制起始。ORC基因家族的共性在于保守的AAA+ ATP酶结构域和DNA结合能力，均参与复制起点的识别及细胞周期调控。研究ORC2有助于理解复制相关疾病机制，并为癌症治疗提供潜在靶点。
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]
原点识别复合物（ORC）是用于在真核细胞中的DNA复制的起始高度保守的6亚基蛋白复合物是至关重要的。在酵母中的研究表明，ORC特异性结合复制起点，并作为附加起始因子如的Cdc6和MCM蛋白装配的平台。由该基因编码的蛋白质是ORC复合物的亚基。这种蛋白质形成核心复合物与ORC3，-4和-5。它还与CDC45和MCM10，这是已知的DNA复制的起始重要的蛋白质相互作用。此蛋白已被证明特异性地与在人类细胞Epstein-Barr病毒的复制起点相关联，并且被认为是需要由病毒复制原点的DNA复制。可变剪接转录物变体已被发现，其中之一是一个无义介导的mRNA衰变的候选人。 [由RefSeq的，2010年10月提供]
基因本体信息
ORC2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
ORC2基因的本体（GO）信息：
| 名称 |
|---|
| 4110 Cell cycle [PATH:hsa04110] |
| 名称 |
|---|
| Activation of ATR in response to replication stress |
| Activation of the pre-replicative complex |
| Assembly of the ORC complex at the origin of replication |
| Assembly of the pre-replicative complex |
| Association of licensing factors with the pre-replicative complex |
| CDC6 association with the ORC:origin complex |
| CDT1 association with the CDC6:ORC:origin complex |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| DNA Replication |
| DNA Replication Pre-Initiation |
| E2F mediated regulation of DNA replication |
| E2F-enabled inhibition of pre-replication complex formation |
| 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 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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