{"symbol":"RNF213","synonyms":["ALO17","MYMY2","C17ORF27","MYSTR","KIAA1618","NET57"],"name":"ring finger protein 213","description":"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]","ncbiEntrezGeneId":57674,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57674","proteins":[{"symbol":"RN213_HUMAN","href":"/api/1.0/protein/RN213_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}