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FLASH GENE
Symbol AARS2 contributors: mct - updated : 13-11-2020
HGNC name alanyl-tRNA synthetase 2, mitochondrial
HGNC id 21022
Corresponding disease
COXPD8 combined oxidative phosphorylation deficiency-8
LKENP leukoencephalopathy, progressive, with ovarian failure
Location 6p21.1      Physical location : 44.266.462 - 44.281.063
Synonym name
  • alanyl tRNA synthetase cytoplasmic
  • alanyl-tRNA synthetase like
    • Synonym symbol(s) KIAA1270, AARSL, bA444E17.1, AlaRS, AARSL, COXPD8, MTALARS, MT-ALARS
    EC.number 6.1.1.7
    DNA
    TYPE functioning gene
    STRUCTURE 14.60 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4782 107 985 - 2005 15779907
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • class-II aminoacyl-tRNA synthetase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • alanyl tRNA synthetase
  • 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) COXPD8 , LKENP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS