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FLASH GENE
Symbol FARS2 contributors: mct - updated : 22-05-2017
HGNC name phenylalanine-tRNA synthetase 2 (mitochondrial)
HGNC id 21062
Corresponding disease
COXPD14 combined oxidative phosphorylation deficiency 14
EIEE94 epileptic encephalopathy, early infantile, 94
SPG77 spastic paraplegia 77, autosomal recessive
Location 6p25.1      Physical location : 5.261.583 - 5.771.816
Synonym name phenylalanine-tRNA synthetase 1 (mitochondrial)
Synonym symbol(s) FARS1, COXPD14, HSPC320, PheRS, SPG77
EC.number 6.1.1.20
DNA
TYPE functioning gene
STRUCTURE 510.59 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1898 - 451 - 2011 21601574
7 - 1892 - 451 - 2011 21601574
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RNA-binding and catalytic domains required for aminoacylation
    • HOMOLOGY
    interspecies homolog to murine Fars2 (85.1pc)
    homolog to rattus Fars1 (86.3pc)
    Homologene
    FAMILY class-II aminoacyl-tRNA synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • phenylalanine tRNA ligase activity
  • monomeric mitochondrial phenylalanyl-tRNA synthetase (mitPheRS) is an enzyme that catalyzes the charging of tRNA with the cognate amino acid phenylalanine
  • conformational flexibility of the two functional modules in FARS2 is essential for its phenylalanylation activity
    • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG77 , EIEE94 , COXPD14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS