RNF213

Also known as ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, ring finger protein 213

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene. RNF213 is a 591kDa cytosolic E3 ubiquitin ligase with RING finger and AAA+ ATPase domains.

Gene data

RNF213

Name: ring finger protein 213
Type: protein-coding
Position: 80,260,852–80,398,794 (+)
Aliases: ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57
Ensembl: ENSG00000173821
RefSeq RNA: NM_001256071.3, NM_001410195.1, NM_020914.5, NM_020954.4, XM_011525084.3
RefSeq protein: NP_001243000.2, NP_001397124.1, NP_065965.5, NP_066005.2, XP_011523386.1

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].

Pathways

Adaptive Immune System Disease Immune System Diseases of signal transduction by growth factor receptors and second messengers Infectious disease Suppression of apoptosis Infection with Mycobacterium tuberculosis Response of Mtb to phagocytosis Signaling by ALK in cancer Signaling by ALK fusions and activated point mutants

via MyGene.info

Gene · Ensembl

ring finger protein 213

Symbol: RNF213
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:80,260,807-80,398,794
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 45439
exact match: identifiers.org/ncbigene/57674
genomic end: 80398794
genomic start: 80260852
cytogenetic location: 17q25.3

Sources (3)

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Clinical relevance
References
Further reading

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene. RNF213 is a 591kDa cytosolic E3 ubiquitin ligase with RING finger and AAA+ ATPase domains.

==Clinical relevance== Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25. Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3. Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in RNF213 gene as a founder mutation of moyamoya disease. A genome-wide association study also identified RNF213 as a disease causing gene for Moyamoya disease. Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213. RNF213 has been shown to be associated with blood flow and oxygen consumption. Given that oxygen and glucose consumption scales with total neuron number, RNF213 may have played a role in facilitating the evolution of larger brains in primates.