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This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
[中文简述(自动翻译):]  该基因编码含有C3HC4型RING指结构域,它是一种特殊类型的锌指结合锌的两个原子和被认为是参与介导蛋白质 - 蛋白质相互作用的蛋白质。该蛋白质还包含一个AAA域,其与ATP酶的活性有关。此基因是烟雾病,颅内动脉的血管障碍的易感基因。这种基因也间变性大细胞淋巴瘤和炎性肌纤维母肿瘤的情况下,一个易位伙伴,其中在(2; 17)(P23; Q25)易位已被确定与间变性淋巴瘤激酶(ALK)基因的染色体2,并在( 8; 17)(Q24,Q25)易位已确定染色体8.多个转录变异体剪接结果Myc基因。 [由RefSeq的,2011年12月提供]
RNF213基因(以及对应的蛋白质)的细胞分布位置:
RNF213基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Moyamoya Disease | 0.247524428 | 19 | 2 | BeFree_GAD_GWASCAT_ORPHANET |
| MOYAMOYA DISEASE 2 | 0.24 | 1 | 0 | CLINVAR_UNIPROT |
| Moyamoya disease 1 | 0.124885954 | 18 | 1 | BeFree_ORPHANET |
| Stricture of artery | 0.000814326 | 3 | 1 | BeFree |
| Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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