RNF213

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.^[5] RNF213 is a 591kDa cytosolic E3 ubiquitin ligase with RING finger and AAA+ ATPase domains.

RNF213
Identifiers
Aliases	RNF213, ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, ring finger protein 213
External IDs	OMIM: 613768; MGI: 1289196; HomoloGene: 45439; GeneCards: RNF213; OMA:RNF213 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 80,260,852 bp[1] End 80,398,794 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 E2|11 83.48 cM Start 119,283,926 bp[2] End 119,378,244 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte pancreatic ductal cell spleen sural nerve bone marrow cell upper lobe of left lung monocyte right lobe of thyroid gland right uterine tube gastric mucosa Top expressed in cervix lymph node epithelium of small intestine stroma of bone marrow mesenteric lymph nodes ovary otolith organ utricle interventricular septum submandibular gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding hydrolase activity ATPase activity ubiquitin-protein transferase activity transferase activity Cellular component nucleolus membrane cytoplasm cytosol Biological process ubiquitin-dependent protein catabolic process negative regulation of non-canonical Wnt signaling pathway angiogenesis sprouting angiogenesis protein homooligomerization protein autoubiquitination protein ubiquitination protein polyubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57674 672511 Ensembl ENSG00000173821 ENSMUSG00000070327 UniProt Q63HN8 n/a RefSeq (mRNA) NM_001256071 NM_020914 NM_020954 NM_001040005 RefSeq (protein) NP_001243000 NP_066005 n/a Location (UCSC) Chr 17: 80.26 – 80.4 Mb Chr 11: 119.28 – 119.38 Mb PubMed search [3] [4]
Wikidata
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Clinical relevance

Chromosome-wide linkage analysis found that moyamoya disease locus resides in chromosome 17q25.^[6] Genome-wide linkage analysis of 15 Japanese families of autosomal dominant moyamoya disease narrowed down the locus to 17q25.3.^[7] Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in RNF213 gene as a founder mutation of moyamoya disease.^[8] A genome-wide association study also identified RNF213 as a disease causing gene for Moyamoya disease.^[9] Comparative evolutionary genome sequencing analyses in humans and monkeys showed that the strongest evidence for acceleration along the branch leading to hominines was RNF213.^[10] RNF213 has been shown to be associated with blood flow and oxygen consumption.^[11][12][13] 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.^[10]