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FLASH GENE
Symbol RNF213 contributors: mct - updated : 02-12-2016
HGNC name ring finger protein 213
HGNC id 14539
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Walker motif and a RING finger domain
  • an ATP binding domain
  • an AAA ATPase domain
  • C2-C2 zinc finger domain
  • a coiled coil-4 domain
  • enzymatically active P-loop ATPase and ubiquitin ligase domains
    • HOMOLOGY
    Homologene
    FAMILY
  • zinc finger family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • cytosolic expression
  • constitutive expression of the RNF213 gene was very low in adult and embryonic brain tissue
    • basic FUNCTION
  • having ATPase and ubiquitin ligase activities (
  • functions as ubiquitin ligase and AAA+ ATPase, which possibly contributes to vascular development through mechanical processes in the cell
  • is involved in vascular remodeling processes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • PTPN1 controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MYMY2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    used to ALK in an ALCL (ALK-positive anaplastic large-cell lymphoma) case with a t(2;17)(p23;q25)
    constitutional     --over  
    in the ischemic brain
    constitutional       loss of function
    improved glucose tolerance by protecting islet beta cells
    Susceptibility
  • to Moyamoya disease (see MYMY4)
  • to Intracranial aneurysms (IAs)
  • to intracranial major artery stenosis/occlusion (ICASO)
    • Variant & Polymorphism other
  • R4810K polymorphism increases susceptibility to Moyamoya disease, inducing phenotypes associated with mitotic abnormalities
  • SNP rs6565666 appeared to be significantly associated with IA subjects
  • RNF213 c.14576G>A is a susceptibility gene for intracranial major artery stenosis/occlusion (ICASO)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of Rnf213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels
  • increased vascular expression of Mmp9 and subsequent vascular wall thinning in Rnf213-/- mice could reflect the early characteristic of MMD (Moyamoya disease)