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FLASH GENE
Symbol EARS2 contributors: mct/npt - updated : 13-11-2020
HGNC name glutamyl-tRNA synthetase 2, mitochondrial (putative)
HGNC id 29419
Corresponding disease
COXPD12 combined oxidative phosphorylation deficiency 12
Location 16p12.2      Physical location : 23.533.334 - 23.568.696
Synonym name
  • mitochondrial glutamyl-tRNA synthetase
  • mitoglutamyl tRNA synthetase like gene
  • glutamate--tRNA ligase
  • Synonym symbol(s) MGRSL, KIAA1970, MSE1, GluRS, COXPD12
    EC.number 6.1.1.17
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 35.36 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 5196 - 523 - 2004 14563839
    10 - 3886 58.7 523 - 2004 14563839
    8 - 1784 - 534 - 2004 14563839
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • class-I aminoacyl-tRNA synthetase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • efficiently misaminoacylates mt tRNA(Gln) to form Glu-tRNA(Gln)
  • nuclear-encoded enzyme that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COXPD12
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS