RNF213

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
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Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.[1] RNF213 is a 591kDa cytosolic E3 Ubiquitin-ligase with RING finger and AAA+ ATPase domains.

Clinical relevance

A genome-wide association study identified RNF213 as the first gene associated to Moyamoya disease.[2] 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.

References

  1. "Entrez Gene: ring finger protein 213".
  2. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S (Jan 2011). "A genome-wide association study identifies RNF213 as the first Moyamoya disease gene". Journal of Human Genetics. 56 (1): 34–40. doi:10.1038/jhg.2010.132. PMID 21048783.

Further reading