Recombinant Human E3 ubiquitin-protein ligase RNF213 (RNF213), partial

1. Data indicate that mysterin/RNF213 is a substrate of ubiquitin specific protease 15 (USP15), and that the conserved skipping of exon 7 significantly decreases its specific affinity for mysterin. PMID: 28276505
2. Meta-analysis showed a statistically significant association between RNF213 p.R4810K and moyamoya disease, intracranial major artery stenosis/occlusion, and quasi-moyamoya disease. Apart from the first 2 diseases, no significant association was identified under the recessive, the homozygote, and the heterozygote models in intracranial major artery stenosis/occlusion. PMID: 29752070
3. We conclude that RNF213 is a gene associated with susceptibility to ICAS in CADASIL patients. MRA follow-up and close observation are necessary for CADASIL patients with the RNF213 variant, as they may be predisposed to ICAS. PMID: 29500468
4. RNF213 p.R4810K polymorphism was associated with an increased risk of intracranial major artery stenosis/occlusion in the East Asian populations. PMID: 29482934
5. in the present study demonstrated, for the first time, that serum sCD163 and CXCL5 levels were significantly elevated in moyamoya diseases(RNF213 mutation) patients compared to those in healthy controls. PMID: 29174692
6. RNF213 4810G>A and RNF213 4950G>A were more frequent in MMD patients. We have confirmed that RNF213 4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types. PMID: 29160859
7. The major finding of the present study is that genetic variant RNF213 c.14576G>A was significantly associated with anterior circulation of Intracranial Atherosclerosis but not with posterior Circulations of Intracranial Atherosclerosis. PMID: 28797616
8. Genotyping of the p.R4810K missense variant is useful for identifying individuals with an elevated risk for steno-occlusive intracranial arterial diseases in the family members of patients with moyamoya disease. PMID: 28506590
9. Significant association between rare missense RNF213 variants and moyamoya angiopathy was found in European patients. PMID: 28635953
10. Variants in RNF213 are associated with increased susceptibility to moyamoya vasculopathy (MMV). Our findings suggest that RNF213 variants may play a role in the development of MMV in patients with hemangioma syndromes associated with congenital cerebral arterial anomalies PMID: 28686325
11. Caveolin-1 level was decreased in patients with Moyamoya disease and markedly decreased in RNF213 variant carriers. Path analysis showed that the presence of the RNF213 variant was associated with caveolin-1 levels that could lead to Moyamoya disease. PMID: 27462098
12. The p.R4810K variant was associated with atherosclerotic and autoimmune quasi-Moyamoya disease in a Chinese population, and a lower prevalence of this variant in patients with quasi-Moyamoya disease compared with patients with Moyamoya disease was observed. PMID: 28063898
13. These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with Moyamoya disease among the 30 RNF213 variants listed in the Human Gene Mutation Database. PMID: 28617845
14. is a susceptibility gene not only for moyamoya disease but also for intracranial atherosclerotic stenosis in East Asians. PMID: 27253870
15. This study suggests that the rs112735431 polymorphism of the RNF213 may be linked to the hypertension in moyamoya disease. PMID: 28320162
16. PTP1B/RNF213/alpha-KGDD pathway is critical for survival of HER2(+) breast cancer, and possibly other malignancies, in the hypoxic tumour microenvironment PMID: 27323329
17. Both RNF213 D4013N and V4146A significantly decreased re-endothelialization in the migration assay compared with RNF213 WT and the control vector. PMID: 27736983
18. We found that RNF213 single nucleotide polymorphism rs6565666 was associated with intracranial aneurysms in French-Canadian individuals. PMID: 27745834
19. The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population. PMID: 28414759
20. RNF213 p.R4810K polymorphism was significantly associated with quasi-moyamoya disease. PMID: 27476341
21. RNF213 is not only associated with MMD but also associated with intracranial major artery stenosis. The genotypes of RNF213 correlate with the phenotypes of MMD. PMID: 27748344
22. Case-control study and meta-analysis both provide evidence of an association between the rs112735431 polymorphism in the RNF213 gene and moyamoya risk. PMID: 27515544
23. This is the first report, to our knowledge, of different moyamoya disease phenotypes in a familial case involving the same heterozygous c.14429G > A variant in RNF213. PMID: 26315205
24. Results suggested that rs112735431 in RNF213 was associated with increased risk of moyamoya disease, especially among Japanese and Korean compared with Chinese. [meta-analysis]. PMID: 26847828
25. The RNF213 c.14576G>A variant is more common in NF-1 patients who develop moyamoya syndrome than in NF-1 patients without moyamoya syndrome. PMID: 26849809
26. The findings indicate that the c.14429G>A (p.R4810K) allele of RNF213 is strongly associated with Korean patients with MMD. The homozygous c.14429G>A (p.R4810K) variant is particularly related to early-onset MMD. PMID: 26430847
27. We herein report pediatric sibling patients of moyamoya disease who have homozygous wild-type c.14576G>A variant in RNF213, showing different clinical course and disease severity. PMID: 26277359
28. RNF213 plays unique roles in endothelial cells for proper gene expressions in response to inflammatory signals from environments. PMID: 26278786
29. There are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and Moyamoya disease (Meta-analysis). PMID: 23466837
30. RNF213 was not associated with bipolar disorder or schizophrenia. PMID: 25053281
31. Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for RNF213. PMID: 26147384
32. results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD PMID: 26590131
33. Not only p.4810K but also other functional missense variants of RNF213 conferred susceptibility to moyamoya disease(MMD). PMID: 25964206
34. This study demonstrated that the RNF213 mutation should form part of the diagnostic workup for moyamoya in clinical practice. PMID: 25956231
35. Nonatherosclerotic quasi-MMD did not have RNF213 c.14576G>A variant. PMID: 25817623
36. vascular wall was significantly thinner in RNF213-/- mice at 14 days PMID: 25383461
37. Study identified of a novel RNF213 variant in a three-generation family of European ancestry with intracerebral vasculopathy displaying variability in age of onset and clinical severity PMID: 25043520
38. Alterations in RNF213 predispose patients of diverse ethnicities to Moyamoya disease. PMID: 25278557
39. the moyamoya disease-associated gene product is a unique protein that functions as ubiquitin ligase and AAA+ ATPase, which possibly contributes to vascular development through mechanical processes in the cell. PMID: 24658080
40. RNF213 R4810K induced mitotic abnormalities and increased risk of genomic instability. PMID: 23994138
41. A particular subset of patients with various phenotypes of ICASO has a common genetic variant, RNF213 c.14576G>A, indicating that RNF213 c.14576G>A variant is a high-risk allele for ICASO. PMID: 23970789
42. A homozygous c.14576G>A variant of RNF213 gene is associated with neurological deficits with vasculopathy in moyamoya disease. PMID: 22931863
43. RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD. PMID: 23850618
44. the influences of PDGFRB, MMP-3, and TIMP-2 on MMD may be unremarkable in Chinese Hans. There may be no prominent interaction among these five gene polymorphisms on the occurrence of MMD. PMID: 23769926
45. Moyamoya disease is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for this disease. Associations of p.R4810K (rs112735431, ss179362673) of RNF213 with blood pressure were investigated in moyamoya disease patients. PMID: 22878964
46. RNF213 mutations are associated with MMD susceptibility in Han Chinese. The ischemic type MMD is particularly related to the R4810K mutation. PMID: 23110205
47. We propose the existence of a new entity of intracranial major artery stenosis/occlusion caused by the c.14576G>A variant in RNF213. PMID: 23010677
48. The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of moyamoya disease PMID: 22377813
49. involvement of RNF213 in genetic susceptibility to moyamoya disease PMID: 21799892
50. KIAA1618 (ALO17) ia a novel fusion partner of anaplastic lymphoma kinase in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor cases. PMID: 12112524

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HGNC: 14539

OMIM: 607151

KEGG: hsa:57674

STRING: 9606.ENSP00000324392

UniGene: Hs.195642