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FLASH GENE
Symbol TARS2 contributors: mct - updated : 18-05-2018
HGNC name threonyl-tRNA synthetase 2, mitochondrial
HGNC id 30740
Corresponding disease
COXPD21 combined oxidative phosphorylation deficiency 21
Location 1q21.2      Physical location : 150.459.919 - 150.479.747
Synonym symbol(s) COXPD21, TARSL1, thrRS
EC.number 6.1.1.3
DNA
TYPE functioning gene
STRUCTURE 20.25 kb     18 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 2807 - 718 - 2014 24827421
16 - 2561 - 636 - 2014 24827421
  • splicing variant of TARS2 mRNA lacking exons 8 and 9, the protein product of which is targeted into mitochondria
    • 14 - 2417 - 588 - 2014 24827421
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • mitochondrial aminoacyl-tRNA synthetase
  • TARS and TARS2 encode cytoplasmic and mitochondrial threonyl-tRNA synthetases (ThrRSs)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COXPD21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS