Basic Information

Symbol
RNF213
RNA class
mRNA
Alias
Ring Finger Protein 213 KIAA1618 ALO17 ALK Lymphoma Oligomerization Partner On Chromosome 17 KIAA1554 Mysterin C17orf27 NET57 E3 Ubiquitin-Lipopolysaccharide Ligase RNF213 E3 Ubiquitin-Protein Ligase RNF213 MYMY2 MYSTR RING-Type E3 Ubiquitin Transferase RNF213 Chromosome 17 Open Reading Frame 27 RING Finger Protein 213 Moyamoya Disease 2 Protein ALO17 EC 2.3.2.27 EC 3.6.4.- EC 2.3.2.-
Location (GRCh38)
17:80260852-80398794
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001256071.3
Sequence length
21079.0 nt
GC content
0.5215

Transcripts

ID Sequence Length GC content
NM_001256071.3 NCBI
GUGACCCGAGGGGCGACAGCGCGCGGCAGGCGGCGAGCUCGGGGGCCGC… 21079 nt 0.5215
NM_001410195.1 NCBI
GUGACCCGAGGGGCGACAGCGCGCGGCAGGCGGCGAGCUCGGGGGCCGC… 17652 nt 0.5262
NM_020914.5 NCBI
GUGACCCGAGGGGCGACAGCGCGCGGCAGGCGGCGAGCUCGGGGGCCGC… 17741 nt 0.5261
NM_020954.4 NCBI
GUGACCCGAGGGGCGACAGCGCGCGGCAGGCGGCGAGCUCGGGGGCCGC… 5334 nt 0.5077
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]

Forensic Context

A study in humans demonstrated that the RNF213 was upregulated in sudden unexplained death (SUD) cases compared to heart-healthy controls, with its involvement in angiogenesis noted [Neubauer et al. DOI:10.1007/S00414-025-03414-4].