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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
  • Gene Overview
    MyGene.info: AARS2
Location & Maps
more
  • Sequence Map
    Chr17:45506841-45520842 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14002 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 22.51 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AARS2, alanyl-tRNA synthetase 2, mitochondrial
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AARS2, alanyl-tRNA synthetase 2, mitochondrial
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AARSL, COXPD8, LKENP, MTALARS, MT-ALARS
  • Links
    NCBI Gene ID: 57505
    neXtProt AC: NX_Q5JTZ9

  • Chr Location
    6p21.1; chr6:44297826-44313358 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human AARS2 associations

Human Disease Mouse Models
       Combined Oxidative Phosphorylation Deficiency 8; COXPD8   OMIM: 614096
Leukoencephalopathy, Progressive, with Ovarian Failure; LKENP   OMIM: 615889
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    7 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023938 Ensembl Gene Model | MGI Sequence Detail 14002 C57BL/6J ±  kb
transcript ENSMUST00000024733 Ensembl | MGI Sequence Detail 3348 Not Applicable  
polypeptide ENSMUSP00000024733 Ensembl | MGI Sequence Detail 980 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    71 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000032745 alanine--tRNA ligase, mitochondrial
  • EC
  • InterPro Domains
    IPR002318 Alanine-tRNA ligase, class IIc
    IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain
    IPR023033 Alanine-tRNA ligase, eukaryota/bacteria
    IPR018165 Alanyl-tRNA synthetase, class IIc, core domain
    IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
    IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain
    IPR012947 Threonyl/alanyl tRNA synthetase, SAD
    IPR009000 Translation protein, beta-barrel domain
Molecular
Reagents
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  • All nucleic 35
    cDNA 34
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:2684935
References
more
  • Summaries
    All 32
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 7
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory