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FLASH GENE
Symbol RNF213 contributors: mct - updated : 02-12-2016
HGNC name ring finger protein 213
HGNC id 14539
Corresponding disease
Location 17q25.3      Physical location : 78.234.666 - 78.370.085
Synonym name
  • ALK lymphoma oligomerization partner on chromosome 17
  • chromosome 17 open reading frame 27
  • mysterin
  • Synonym symbol(s) KIAA1554, C17orf27, ALO17, MYMY2, NET57, mystr, MGC9929, FLJ13051, KIAA1618, MGC46622, mysterin,DKFZp762N1115
    DNA
    TYPE functioning gene
    STRUCTURE 135.42 kb     69 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    69 - 18702 596.5 5256 - 2002 12112524
    17 - 5330 - 1063 - 2002 12112524
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     stomach   predominantly
    Lymphoid/Immunespleen   highly Homo sapiens
    Reproductivefemale systemuterus  highly
     female systembreastmammary gland  
    Respiratoryrespiratory tractlarynx   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    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) MYMY4
    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)