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FLASH GENE
Symbol MARS2 contributors: mct - updated : 20-05-2015
HGNC name methionine-tRNA synthetase 2 (mitochondrial)
HGNC id 25133
Corresponding disease
SPAX3 spastic ataxia 3
Location 2q33.1      Physical location : 198.570.086 - 198.573.113
Synonym name
  • methionine--tRNA ligase 2
    • Synonym symbol(s) mtMetRS, MetRS
    EC.number 6.1.1.10
    DNA
    TYPE functioning gene
    STRUCTURE 3.09 kb     1 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • a functional CpG island acting as constitutive promoters of housekeeping genes and are methylated to silence transcription
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3102 - 593 - 2004 1527462
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepancreas exocrine    
    Lymphoid/Immunethymus   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 18 amino acid mitochondrial import signal sequence
  • consensus motifs characteristic of a class I aminoacyl-tRNA synthetase but lacks the Zn(2+) binding motif
  • C-terminal dimerization region
    • HOMOLOGY
    interspecies ortholog to drosophila Aats-met
    Homologene
    FAMILY class-1 aminoacyl-tRNA synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • methionine-tRNA ligase activity
  • is a mitochondrial translation factor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    APT binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPAX3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, poor growth, sensorineural hearing loss and hypotonia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS