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

Gene ID: 124454, updated on 3-Apr-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
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Genomic context

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Location:
16p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23520754..23557375, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23796546..23833174, complement)
105.20220307 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. EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer. Lehrer S, et al. Cancer Treat Res Commun, 2022. PMID 35779338, Free PMC Article
  2. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Talim B, et al. Brain, 2013 Feb. PMID 23008233
  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. 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
  5. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Calvo SE, et al. Sci Transl Med, 2012 Jan 25. PMID 22277967, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
    Title: EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
  2. 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.
  3. 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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
  
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; probable glutamate--tRNA ligase, mitochondrial
Names
glutamate tRNA ligase 2, mitochondrial
glutamate--tRNA ligase
glutamate--tRNA(Gln) ligase EARS2, mitochondrial
mitochondrial glutamyl-tRNA synthetase
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_2023_10

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  probable glutamate--tRNA ligase, 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  probable glutamate--tRNA ligase, mitochondrial isoform X1

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

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