Gene: RNF213
Alternate names for this Gene: ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.3
Description of this Gene: ring finger protein 213
Type of Gene: protein-coding
rs17857135 in
RNF213 gene and
Migraine Disorders
PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
rs10782008 in
RNF213 gene and
Moyamoya Disease
PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.
PMID 29273593 2018 One SNP, rs9916351 in <i>RNF213</i> (<i>P</i><sub>combined</sub>=4.57×10<sup>-54</sup>; odds ratio, 1.96), showed a stronger genetic effect on early-onset than late-onset MMD (<i>P</i>=0.003).
rs10782008 in
RNF213 gene and
Moyamoya disease 1
PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.
PMID 29273593 2018 One SNP, rs9916351 in <i>RNF213</i> (<i>P</i><sub>combined</sub>=4.57×10<sup>-54</sup>; odds ratio, 1.96), showed a stronger genetic effect on early-onset than late-onset MMD (<i>P</i>=0.003).