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

Gene ID: 124454, updated on 24-Nov-2020

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

Genomic context

See EARS2 in Genome Data Viewer
Location:
16p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23520754..23557375, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23533334..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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
glutamate-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
glutamate-tRNA(Gln) ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
tRNA binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glutamyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA aminoacylation for mitochondrial protein translation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
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)

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
    ENSP00000395196.1, ENST00000449606.6
    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 109.20201120

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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