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FLASH GENE
Symbol NARS2 contributors: mct - updated : 16-09-2020
HGNC name asparaginyl-tRNA synthetase 2, mitochondrial
HGNC id
Corresponding disease
COXPD24 combined oxidative phosphorylation deficiency 24
DFNB94 deafness, autosomal recessive 94
Location 11q14.1      Physical location : 78.147.016 - 78.285.909
Synonym name
  • probable asparaginyl-tRNA synthetase, mitochondrial
  • Synonym symbol(s) DFNB94, SLM5, asnRS, FLJ23441
    EC.number 6.1.1.22
    DNA
    TYPE functioning gene
    STRUCTURE 138.90 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2031 - 250 - 2017 28077841
    14 - 2512 - 477 - 2017 28077841
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
     earinnervestibule   Homo sapiens
    Nervousgangliasensory ganglia    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal mitochondrial targeting signal with a predicted cleavage site after residue 14
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB94 , COXPD24
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS