RAD51B属于RAD51基因家族,该家族在DNA同源重组修复(HRR)过程中起关键作用,主要参与维持基因组稳定性。RAD51B编码的蛋白与RAD51、RAD51C、RAD51D等家族成员形成复合物,共同促进DNA双链断裂(DSB)修复中的链交换反应。该基因在减数分裂和有丝分裂中均发挥重要作用,尤其在生殖细胞和快速增殖的体细胞(如造血干细胞)中表达较高。RAD51B蛋白通过结合单链DNA并介导同源搜索和链入侵,确保DNA损伤的正确修复。若RAD51B发生功能丧失性突变(如错义突变或截短突变),会导致HRR缺陷,引发染色体不稳定、易位或断裂,增加癌症风险(如乳腺癌、卵巢癌)。此外,RAD51B突变还与范可尼贫血等遗传病相关,表现为骨髓衰竭和发育异常。当RAD51B过表达时,可能增强DNA修复能力但同时也可能促进肿瘤细胞对放化疗的抵抗;而低表达或缺失则导致修复功能受损,使细胞对DNA损伤剂(如PARP抑制剂)敏感,这一特性被用于合成致死疗法。RAD51基因家族的共性包括:均含保守的RecA结构域,形成丝状核蛋白复合物,依赖ATP水解完成DNA重组,且多数成员(如RAD51A-D)存在物理相互作用。研究还发现RAD51B与XRCC2、XRCC3等非家族蛋白协作,其表达水平受ATM/ATR等DNA损伤应答通路调控。
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Jul 2011]
Subcellular localization of RAD51B (and its protein):
Gene Ontology (GO) terms for RAD51B:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 3440 Homologous recombination [PATH:hsa03440] |
| Name |
|---|
| Factors involved in megakaryocyte development and platelet production |
| Hemostasis |
| Disease | Score | NofPmids | NofSnps | Source |
| Malignant neoplasm of breast | 0.132453989 | 15 | 26 | BeFree_GAD_GWASCAT |
| Mammary Neoplasms | 0.122367032 | 2 | 0 | CTD_human_GAD |
| Age related macular degeneration | 0.120542884 | 3 | 2 | BeFree_GWASCAT |
| Rheumatoid Arthritis | 0.120271442 | 2 | 1 | BeFree_GWASCAT |
| Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
| Primary biliary cirrhosis | 0.12 | 1 | 1 | GWASCAT |
| Breast Neoplasms, Male | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of prostate | 0.12 | 1 | 1 | GWASCAT |
| Hamartoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Breast Carcinoma | 0.002985861 | 11 | 23 | BeFree |
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