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    EARS2 glutamyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 124454, updated on 4-Jul-2021

    Summary

    Official Symbol
    EARS2provided by HGNC
    Official Full Name
    glutamyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:29419
    See related
    Ensembl:ENSG00000103356 MIM:612799
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSE1; gluRS; COXPD12; mtGlnRS
    Summary
    This gene encodes a 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 this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 6.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See EARS2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23520754..23557375, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23532075..23568696, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene component of oligomeric golgi complex 7 Neighboring gene RN7SK pseudogene 23 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 Neighboring gene cyclin Y like 7 (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 1793 Neighboring gene SUB1 pseudogene 4 Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1970

    Gene Ontology Provided by GOA

    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
    PubMed 
    enables glutamate-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glutamate-tRNA(Gln) ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    involved_in glutamyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA aminoacylation for mitochondrial protein translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable glutamate--tRNA ligase, mitochondrial
    Names
    glutamate tRNA ligase 2, mitochondrial
    glutamate--tRNA ligase
    probable glutamyl-tRNA synthetase, mitochondrial
    NP_001077083.1
    NP_001295140.1
    XP_011544040.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_027752.2 RefSeqGene

      Range
      5026..41622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083614.2NP_001077083.1  probable glutamate--tRNA ligase, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001077083.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC002400
      Consensus CDS
      CCDS42132.1
      UniProtKB/Swiss-Prot
      Q5JPH6
      Related
      ENSP00000395196.2, ENST00000449606.7
      Conserved Domains (2) summary
      cd00808
      Location:36361
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:37520
      gltX; glutamyl-tRNA synthetase; Reviewed
    2. NM_001308211.1NP_001295140.1  probable glutamate--tRNA ligase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001295140.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) an exon and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC002400, BC040013, DA692403
      Consensus CDS
      CCDS76844.1
      UniProtKB/Swiss-Prot
      Q5JPH6
      Related
      ENSP00000456218.1, ENST00000563232.1
      Conserved Domains (2) summary
      cd00808
      Location:36361
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:37508
      gltX; glutamyl-tRNA synthetase; Reviewed

    RNA

    1. NR_003501.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' region, compared to variant 1. Translation of the ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB075850, AC002400, DA692403

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      23520754..23557375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545738.1XP_011544040.1  probable glutamate--tRNA ligase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd00808
      Location:23337
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:23496
      gltX; glutamyl-tRNA synthetase; Reviewed

    RNA

    1. XR_001751841.1 RNA Sequence

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