RNF213 ring finger protein 213 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 57674)
Source: NCBI Gene (ID 57674)
Symbol: RNF213
Full name: ring finger protein 213
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: ALO17; C17orf27; KIAA1618; MYMY2; MYSTR; NET57
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. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in spleen (RPKM 11.7), appendix (RPKM 11.6) and 25 other tissues
Orthologs: mouse
Gene size: 137943bp
Exon count: 74