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

    Gene ID: 67417, updated on 27-Nov-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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    See Ears2 in Genome Data Viewer
    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. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (25) 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)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (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 glutamate-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutamate-tRNA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamate-tRNA ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glutamate-tRNA(Gln) ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamate-tRNA(Gln) ligase activity ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamyl-tRNA aminoacylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tRNA aminoacylation for mitochondrial protein translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA aminoacylation for mitochondrial protein translation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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