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Ears2 glutamyl-tRNA synthetase 2, mitochondrial [ Mus musculus (house mouse) ]

Gene ID: 67417, updated on 21-Apr-2024

Summary

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Official Symbol
Ears2provided by MGI
Official Full Name
glutamyl-tRNA synthetase 2, mitochondrialprovided by MGI
Primary source
MGI:MGI:1914667
See related
Ensembl:ENSMUSG00000030871 AllianceGenome:MGI:1914667
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mtGluRS; mKIAA1970; 3230401I01Rik
Summary
This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in a similar gene in human have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). [provided by RefSeq, Mar 2015]
Expression
Ubiquitous expression in adrenal adult (RPKM 4.5), ovary adult (RPKM 3.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 F2; 7 65.3 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (121633385..121666436, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (122034162..122067094, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene component of oligomeric golgi complex 7 Neighboring gene STARR-seq mESC enhancer starr_20069 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E10471 Neighboring gene ubiquitin family domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E3748 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene partner and localizer of BRCA2 Neighboring gene 60S ribosomal protein L27-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Talim B, et al. Brain, 2013 Feb. PMID 23008233
  2. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Steenweg ME, et al. Brain, 2012 May. PMID 22492562
  3. Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Harrison SM, et al. Development, 1995 Aug. PMID 7671812
  4. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
  5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables aminoacyl-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables glutamate-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate-tRNA ligase activity ISO
Inferred from Sequence Orthology
more info
  
enables glutamate-tRNA(Gln) ligase activity ISO
Inferred from Sequence Orthology
more info
  
enables ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables tRNA binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in glutamyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glutamyl-tRNA aminoacylation ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA aminoacylation for mitochondrial protein translation ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA aminoacylation for protein translation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial
Names
gluRS
glutamate--tRNA ligase
glutamate--tRNA(Gln) ligase EARS2, mitochondrial
glutamyl-tRNA synthetase 2 (mitochondrial)(putative)
mitochondrial glutamyl-tRNA synthetase
probable glutamate--tRNA ligase, mitochondrial
probable glutamyl-tRNA synthetase, mitochondrial
NP_080416.1
XP_030098789.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_026140.3 → NP_080416.1  nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_080416.1

    Status: REVIEWED

    Source sequence(s)
    AC124379, AK014324, AK167506, AW495609, BY122579
    Consensus CDS
    CCDS21807.1
    UniProtKB/Swiss-Prot
    Q3TJB3, Q9CXJ1
    Related
    ENSMUSP00000033159.4, ENSMUST00000033159.4
    Conserved Domains (2) summary
    cd00808
    Location:37 → 361
    GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
    PRK01406
    Location:36 → 521
    gltX; glutamyl-tRNA synthetase; Reviewed

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    121633385..121666436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242929.2 → XP_030098789.1  nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform X1

    Conserved Domains (1) summary
    PRK01406
    Location:36 → 162
    gltX; glutamyl-tRNA synthetase; Reviewed

RNA

  1. XR_003946547.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CXJ1.1 GenPept UniProtKB/Swiss-Prot:Q9CXJ1

Gene LinkOut

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