Aliases for RNF213 Gene
External Ids for RNF213 Gene
Previous HGNC Symbols for RNF213 Gene
Previous GeneCards Identifiers 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 Moyamoya Disease 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ATPase activity.
UniProtKB/Swiss-Prot Summary for RNF213 Gene
E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).