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Aars2 Gene Detail
Summary
  • Symbol
    Aars2
  • Name
    alanyl-tRNA synthetase 2, mitochondrial
  • Synonyms
    Aarsl, MGC:69820
  • Feature Type
    protein coding gene
  • IDs
    MGI:2681839
    NCBI Gene: 224805
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:45817767-45831769 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 22.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    71 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2681839
 protein coding gene Chr17:45817473-45831769 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023788
 protein coding gene Chr17:46519829-46535336 (+)
A/J MGP_AJ_G0023746
 protein coding gene Chr17:45408810-45422650 (+)
AKR/J MGP_AKRJ_G0023717
 protein coding gene Chr17:45717308-45731531 (+)
BALB/cJ MGP_BALBcJ_G0023750
 protein coding gene Chr17:45297436-45311617 (+)
C3H/HeJ MGP_C3HHeJ_G0023514
 protein coding gene Chr17:46427913-46442923 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024193
 protein coding gene Chr17:48531015-48548462 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021643
 protein coding gene Chr17:42205655-42219100 (+)
CAST/EiJ MGP_CASTEiJ_G0022995
 protein coding gene Chr17:46528339-46541980 (+)
CBA/J MGP_CBAJ_G0023490
 protein coding gene Chr17:50254025-50271701 (+)
DBA/2J MGP_DBA2J_G0023616
 protein coding gene Chr17:44198971-44212907 (+)
FVB/NJ MGP_FVBNJ_G0023583
 protein coding gene Chr17:43775930-43790146 (+)
LP/J MGP_LPJ_G0023697
 protein coding gene Chr17:47167432-47181315 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023612
 protein coding gene Chr17:49825096-49840406 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024238
 protein coding gene Chr17:46074871-46092877 (+)
PWK/PhJ MGP_PWKPhJ_G0022740
 protein coding gene Chr17:43506721-43520288 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022555
 protein coding gene Chr17:42947037-42960578 (+)
WSB/EiJ MGP_WSBEiJ_G0023060
 protein coding gene Chr17:46602695-46616668 (+)



Homology
more
  • Human Ortholog
    AARS2, alanyl-tRNA synthetase 2, mitochondrial
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AARS2, alanyl-tRNA synthetase 2, mitochondrial
  • Synonyms
    AARSL, COXPD8, LKENP, MTALARS, MT-ALARS
  • Links
    NCBI Gene ID: 57505
    neXtProt AC: NX_Q5JTZ9
    UniProt: Q5JTZ9

  • Chr Location
    6p21.1; chr6:44298731-44313347 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human AARS2 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
    10 phenotypes from 3 alleles in 2 genetic backgrounds
    10 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.
Alleles with single amino acid substitutions that result in loss of tRNA proofreading are embryonic lethal and E8.5 embryos are small.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • 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
non-membrane-bounded 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
    35
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023938 Ensembl Gene Model | MGI Sequence Detail 14003 C57BL/6J ±  kb
    transcript ENSMUST00000024733 Ensembl | MGI Sequence Detail 3349 Not Applicable  
    polypeptide ENSMUSP00000024733 Ensembl | MGI Sequence Detail 980 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000032745 alanine--tRNA ligase, mitochondrial
      (term hierarchy)
    • EC
      6.1.1.7
    • InterPro Domains
      IPR002318 Alanine-tRNA ligase, class IIc
      IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily
      IPR023033 Alanine-tRNA ligase, eukaryota/bacteria
      IPR018165 Alanyl-tRNA synthetase, class IIc, core domain
      IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
      IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
      IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
      IPR012947 Threonyl/alanyl tRNA synthetase, SAD
      IPR009000 Translation protein, beta-barrel domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 35
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2684935
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 10
    • Earliest
      J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
    • Latest
      J:257856 Hilander T, et al., Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria. Nucleic Acids Res. 2018 Jan 25;46(2):849-860
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory