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FLASH GENE
Symbol MIEF2 contributors: mct - updated : 18-06-2019
HGNC name mitochondrial elongation factor 2
HGNC id 17920
Location 17p11.2      Physical location : -
Synonym name
  • Smith-Magenis syndrome chromosome region, candidate 7
  • mitochondrial dynamic protein MID49
  • mitochondrial dynamic protein of 49 kDa
  • Synonym symbol(s) MGC23130, MID49, SMCR7
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 5.89 kb     4 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map see SMCR (phenotype)
    RNA
    TRANSCRIPTS type messenger
    text differing by the 5'utr
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3236 50 454 - 2016 27660309
    4 - 2458 - 465 - 2016 27660309
    4 - 2814 - 205 - 2016 27660309
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text widely
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nucleotidyl transferase domain
  • a surface loop that physically interacts with DNM1L and is necessary for DNM1L recruitment to the mitochondrial surface
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    text transmembrane protein
    basic FUNCTION
  • SMCR7/SMCR7L form foci and rings around mitochondria similar to the fission mediator dynamin-related protein 1 (DNM1L)
  • SMCR7/SMCR7L are new mediators of mitochondrial division affecting DNM1L action at mitochondria
  • mitochondrial regulators MIEF1 and MIEF2 exert partially distinct functions in mitochondrial dynamics
  • MIEF1, MIEF2 can act independently of MFF and FIS1 in DNM1L recruitment, suggesting that they provide specificity to the division of mitochondria (PMUID: 23921378)
  • role of DNM1L adaptor proteins MIEF2 and MIEF1 in mitochondrial fission
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DNM1L-dependent mitochondrial fission through MIEF1 MIEF2 regulates cristae remodeling during intrinsic apoptosis
  • ER can function as a platform for DNM1L oligomerization, and ER-associated DNM1L contributes to mitochondrial division
  • DNM1L receptors include the paralogues mitochondrial dynamics proteins of 49 and 51 kDa (MIEF1 and MIEF2) and mitochondrial fission factor (MFF)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    result in imbalanced mitochondrial dynamics and a combined respiratory chain enzyme defect in skeletal muscle, leading to mitochondrial myopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS