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Fars2 Gene Detail
Summary
  • Symbol
    Fars2
  • Name
    phenylalanine-tRNA synthetase 2, mitochondrial
  • Synonyms
    2810431B21Rik, 6720478K01Rik, Fars1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917205
    NCBI Gene: 69955
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:36301373-36721569 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 14.44 cM, cytoband A5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10409 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917205
 protein coding gene Chr13:36301373-36910254 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020462
 protein coding gene Chr13:34417096-34758108 (+)
A/J MGP_AJ_G0020416
 protein coding gene Chr13:33371361-33709820 (+)
AKR/J MGP_AKRJ_G0020394
 protein coding gene Chr13:34214065-34566631 (+)
BALB/cJ MGP_BALBcJ_G0020412
 protein coding gene Chr13:33452624-33790219 (+)
C3H/HeJ MGP_C3HHeJ_G0020211
 protein coding gene Chr13:34060297-34401102 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020845
 protein coding gene Chr13:35566741-35919025 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018432
 protein coding gene Chr13:31589074-31932229 (+)
CAST/EiJ MGP_CASTEiJ_G0019726
 protein coding gene Chr13:33696951-34136634 (+)
CBA/J MGP_CBAJ_G0020172
 protein coding gene Chr13:37103015-37463004 (+)
DBA/2J MGP_DBA2J_G0020294
 protein coding gene Chr13:32893556-33234589 (+)
FVB/NJ MGP_FVBNJ_G0020273
 protein coding gene Chr13:32435976-32769710 (+)
LP/J MGP_LPJ_G0020369
 protein coding gene Chr13:34644068-35001177 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020303
 protein coding gene Chr13:37260835-37612606 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020888
 protein coding gene Chr13:33711707-34141665 (+)
PWK/PhJ MGP_PWKPhJ_G0019481
 protein coding gene Chr13:33008190-33348274 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019312
 protein coding gene Chr13:32408632-32832237 (+)
WSB/EiJ MGP_WSBEiJ_G0019788
 protein coding gene Chr13:34160640-34505425 (+)



Homology
more
  • Human Ortholog
    FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FARS2, phenylalanyl-tRNA synthetase 2, mitochondrial
  • Synonyms
    COXPD14, FARS1, HSPC320, mtPheRS, PheRS, SPG77
  • Links
    NCBI Gene ID: 10667
    neXtProt AC: NX_O95363
    UniProt: O95363

  • Chr Location
    6p25.1; chr6:5249934-5829192 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human FARS2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 4 alleles in 3 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for loss of function alleles arrest at the early streak stage. Mice with loss of expression in nervous tissue display neonatal lethality, thin cerebral cortex, and mitochondrial dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    800
  • Tissues
    94
  • cDNA Data
    60
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69955 NCBI Gene Model | MGI Sequence Detail 420197 C57BL/6J ±  kb
    transcript NM_024274 RefSeq | MGI Sequence Detail 1896 C57BL/6  
    polypeptide Q99M01 UniProt | EBI | MGI Sequence Detail 451 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000007345 phenylalanine--tRNA ligase, mitochondrial
      (term hierarchy)
    • EC
      6.1.1.20
    • InterPro Domains
      IPR006195 Aminoacyl-tRNA synthetase, class II
      IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
      IPR005121 Ferrodoxin-fold anticodon-binding domain
      IPR036690 Ferrodoxin-fold anticodon-binding domain superfamily
      IPR002319 Phenylalanyl-tRNA synthetase
      IPR004530 Phenylalanyl-tRNA synthetase, class IIc, mitochondrial
    Molecular
    Reagents
    less
    • All nucleic 60
      cDNA 60

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1925151
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 4
      Gene Ontology 7
      Phenotypes 15
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory