Aliases for RNF213 Gene
External Ids for RNF213 Gene
Previous Symbols for RNF213 Gene
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]
GeneCards Summary for RNF213 Gene
RNF213 (Ring Finger Protein 213) is a Protein Coding gene. Diseases associated with RNF213 include moyamoya disease 2 and anaplastic large cell lymphoma. GO annotations related to this gene include nucleotide binding and ATPase activity.
UniProtKB/Swiss-Prot for RNF213 Gene
Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity