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

    Gene ID: 124454, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:29419
    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; mtGluRS
    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
    mouse all
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    Genomic context

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    Location:
    16p12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23520754..23557375, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23796546..23833174, complement)
    RS_2024_09 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 uncharacterized LOC124903667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10581 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23511811-23512473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23515779-23516280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23516281-23516780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10582 Neighboring gene cyclin Y like 7 (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23549327-23549828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23549829-23550328 Neighboring gene SUB1 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23567356-23568000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10583 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23568645-23569289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23569290-23569933 Neighboring gene ubiquitin family domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23605373-23605549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7281 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review. Pelayo G, et al. Neurobiol Dis, 2024 Oct 1. PMID 39173847
    2. EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer. Lehrer S, et al. Cancer Treat Res Commun, 2022. PMID 35779338, Free PMC Article
    3. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Steenweg ME, et al. Brain, 2012 May. PMID 22492562
    4. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Talim B, et al. Brain, 2013 Feb. PMID 23008233
    5. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. Nagao A, et al. Proc Natl Acad Sci U S A, 2009 Sep 22. PMID 19805282, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
      Title: Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
    2. EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
      Title: EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
    3. This study presented that a new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2.
      Title: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
    4. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
      Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
      Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
    MedGen: C4706421 OMIM: 614924 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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 HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial
    Names
    glutamate tRNA ligase 2, mitochondrial
    glutamate--tRNA ligase
    glutamate--tRNA(Gln) ligase EARS2, mitochondrial
    mitochondrial glutamyl-tRNA synthetase
    probable glutamate--tRNA ligase, mitochondrial
    probable glutamyl-tRNA synthetase, mitochondrial
    NP_001077083.1
    NP_001295140.1
    XP_011544040.1
    XP_054235587.1

    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.

    Genomic

    1. NG_027752.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001083614.2 → NP_001077083.1  nondiscriminating glutamyl-tRNA synthetase EARS2, 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
      B3KTT2, D3DWF1, Q5JPH6, Q86YH3, Q8TF31
      UniProtKB/TrEMBL
      H3BTB7
      Related
      ENSP00000395196.2, ENST00000449606.7
      Conserved Domains (2) summary
      cd00808
      Location:36 → 361
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:37 → 520
      gltX; glutamyl-tRNA synthetase; Reviewed

    2. NM_001308211.1 → NP_001295140.1  nondiscriminating glutamyl-tRNA synthetase EARS2, 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/TrEMBL
      H3BTB7
      Related
      ENSP00000456218.1, ENST00000563232.1
      Conserved Domains (2) summary
      cd00808
      Location:36 → 361
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:37 → 508
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011545738.2 → XP_011544040.1  nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform X1

      UniProtKB/TrEMBL
      H3BTB7
      Conserved Domains (2) summary
      cd00808
      Location:23 → 337
      GluRS_core; catalytic core domain of discriminating glutamyl-tRNA synthetase
      PRK01406
      Location:23 → 496
      gltX; glutamyl-tRNA synthetase; Reviewed

    RNA

    1. XR_001751841.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23796546..23833174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379612.1 → XP_054235587.1  nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform X1

      UniProtKB/TrEMBL
      H3BTB7

    RNA

    1. XR_008489056.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JPH6.2 GenPept UniProtKB/Swiss-Prot:Q5JPH6

    Gene LinkOut

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

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