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Ears2 Gene Detail
Summary
  • Symbol
    Ears2
  • Name
    glutamyl-tRNA synthetase 2, mitochondrial
  • Synonyms
    3230401I01Rik, mKIAA1970
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914667
    NCBI Gene: 67417
Location & Maps
more
  • Sequence Map
    Chr7:122037213-122067263 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30051 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 65.30 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EARS2, glutamyl-tRNA synthetase 2, mitochondrial
  • Vertebrate Orthologs
    11
  • Human Ortholog
    EARS2, glutamyl-tRNA synthetase 2, mitochondrial
    Orthology source: HGNC, HomoloGene
  • Synonyms
    COXPD12, gluRS, MSE1
  • Links
    NCBI Gene ID: 124454
    neXtProt AC: NX_Q5JPH6

  • Chr Location
    16p12.2; chr16:23522013-23557375 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human EARS2 associations

Human Disease Mouse Models
       Combined Oxidative Phosphorylation Deficiency 12; COXPD12   OMIM: 614924
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    9 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.
  • All Mutations and Alleles
    29
  • Gene trapped
    26
  • Targeted
    3
  • Incidental Mutations
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025467 VEGA Gene Model | MGI Sequence Detail 30051 C57BL/6J ±  kb
transcript OTTMUST00000062703 VEGA | MGI Sequence Detail 2046 Not Applicable  
polypeptide OTTMUSP00000030963 VEGA | MGI Sequence Detail 523 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    116 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000030548 glutamate--tRNA ligase, mitochondrial
  • EC
  • InterPro Domains
    IPR008925 Aminoacyl-tRNA synthetase, class I, anticodon-binding
    IPR020751 Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2
    IPR001412 Aminoacyl-tRNA synthetase, class I, conserved site
    IPR004527 Glutamate-tRNA ligase, bacterial/mitochondrial
    IPR000924 Glutamyl/glutaminyl-tRNA synthetase
    IPR020061 Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain
    IPR020058 Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain
    IPR014729 Rossmann-like alpha/beta/alpha sandwich fold
Molecular
Reagents
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  • All nucleic 9
    cDNA 8
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGI:2142095
References
more
  • Summaries
    All 33
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • 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
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory