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FLASH GENE
Symbol AFG3L2 contributors: mct - updated : 01-09-2015
HGNC name AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
HGNC id 315
Corresponding disease
SCA28 spinocerebellar ataxia 28
SPAX5 ataxia, spastic, 5, autosomal recessive
Location 18p11.21      Physical location : 12.328.943 - 12.377.275
Synonym name
  • AFG3 ATPase family gene 3-like 2 (yeast)
  • paraplegin-like protein
  • AFG3-like protein 2
  • ATPase family gene 3, yeast
  • Synonym symbol(s) FLJ25993, SCA28, SPAX5
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 48.35 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    APCDD1 18p11.21 adenomatosis polyposis coli down-regulated 1 NAPG 18p11.21 N-ethylmaleimide-sensitive factor attachment protein, gamma LOC390831 18 similar to Phosphomannomutase 2 (PMM 2) FLJ23403 18p11.21 hypothetical protein FLJ23403 LOC342843 18p11.21 similar to hypothetical protein LOC284221 18p11.21 hypothetical protein LOC284221 FLJ34907 18p11.21 hypothetical protein FLJ34907 LOC388463 18 similar to acyl-malonyl condensing enzyme LOC388464 18 hypothetical gene supported by D86974 GNAL 18p11.31 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type CHMP1.5 18p11.21 CHMP1.5 protein MPPE1 18p11.21-p11.1 CHMP1.5 protein IMPA2 18p11.22-p11.21 inositol(myo)-1(or 4)-monophosphatase 2 LOC284226 18p11.21 similar to Kinesin-like protein KIF1C LOC284227 18p11.21 similar to single stranded DNA binding protein 4 LOC162835 18p11.21 similar to G protein-coupled receptor 124 LOC342850 18p11.21 similar to KIAA1074 protein LOC390832 18 similar to Phosphomannomutase 2 (PMM 2) CIDEA 18p11.21 cell death-inducing DFFA-like effector a MGC4083 18p11.21 tubulin beta MGC4083 AFG3L2 18p11 AFG3 ATPase family gene 3-like 2 (yeast) HFL-EDDG1 18p11.21 erythroid differentiation and denucleation factor 1 Spir-1 18p11.21 Spir-1 protein C18orf9 18p11.21 chromosome 18 open reading frame 9 HCCA3 18p11.21 hepatocellular carcinoma susceptibility protein PTPN2 18p11.22-p11.21 protein tyrosine phosphatase, non-receptor type 2 SEC13L 18p11.21 sec13-like protein LOC390833 18 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like LOC388465 18 LOC388465 FLJ31338 18p11.21 hypothetical protein FLJ31338 C18orf1 18p11.2 chromosome 18 open reading frame 1 MGC24180 18p11.21 hypothetical protein MGC24180 RNMT 18p11.22 RNA (guanine-7-) methyltransferase MC5R 18p11.2 melanocortin 5 receptor MC2R 18p11.21 melanocortin 2 receptor (adrenocorticotropic hormone) LOC284230 18p11.21 similar to large subunit ribosomal protein L36a LOC162655 LOC342853 18p11.21 similar to KIAA0685 protein LOC388466 18 hypothetical gene supported by NM_032250 LOC284232 18p11.21 similar to Ankyrin repeat domain protein 18A
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3223 88 797 - PMID: 20208537
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivesalivary gland   highly
    Nervousbrainhindbraincerebellum specific
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an ATP-binding/ATPase domain (AAA domain), the structural hallmark of the AAA-protease subfamily
  • a zinc-dependent metalloprotease domain in a single polypeptide
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to yeast mitochondrial proteins, Yta10p (Afg3p) (Di Bella 2010)
    intraspecies homolog to paraplegin SPG7
    Homologene
    FAMILY
  • AAA ATPase family (in the N terminal)
  • peptidase M41 family (in the C terminal)
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • turn over of mistranslated and misfolded mt DNA encoded polypeptides
  • crucial role by linking mitochondrial metabolism and axonal development
  • important role of the homo-oligomeric AFG3L2 m-AAA complex in neuronal degeneration
  • unexpectedly essential role in protecting the cerebellum from neurodegeneration and expand the spectrum of molecular mechanisms underlying the overlapping features of hereditary ataxias
  • is linked to mitochondrial Ca2+ buffering
  • cell-autonomous requirement of AFG3L2 for survival of Purkinje cell
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the m-AAA protease, a high molecular weight complex in the inner mitochondrial membrane evolutionary conserved from yeast to mammals (exists in a hetero-oligomeric form, composed of paraplegin and AFG3L2)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • assembles with the homologous protein paraplegin to form a supracomplex in charge of the essential protein quality control within mitochondria
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA28 , SPAX5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes a marked reduction in mitochondrial Ca2+ buffering
    Susceptibility
    Variant & Polymorphism
    Candidate gene excellent candidate for motoneuron and cerebellar diseases with early onset unknown etiology
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Afg3l2 in mouse embryonic fibroblasts (MEFs) reduces mitochondrial Ca2+ uptake capacity
  • Afg3l2-/- mice resemble patients carrying homozygous mutations, showing a severe neurological syndrome that leads to lethality at P16