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EARS2 Gene(Protein Coding)

Glutamyl-TRNA Synthetase 2, Mitochondrial

GCID:
GC16M023533
GIFtS:
60
Genes Participants
UDN Logo

Aliases for EARS2 Gene

Aliases for EARS2 Gene

  • Glutamyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • EC 6.1.1.17 4 63
  • GluRS 3 4
  • Glutamyl-TRNA Synthetase 2, Mitochondrial (Putative) 2
  • Probable Glutamyl-TRNA Synthetase, Mitochondrial 3
  • Glutamate TRNA Ligase 2, Mitochondrial 3
  • Glutamyl-TRNA Synthetase 4
  • Glutamate TRNA Ligase 2 2
  • Glutamate--TRNA Ligase 3
  • Mitochondrial 2
  • KIAA1970 4
  • COXPD12 3
  • MSE1 3

External Ids for EARS2 Gene

Previous GeneCards Identifiers for EARS2 Gene

  • GC16M023440
  • GC16M021624

Summaries for EARS2 Gene

Entrez Gene Summary for EARS2 Gene

  • 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]

GeneCards Summary for EARS2 Gene

EARS2 (Glutamyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with EARS2 include combined oxidative phosphorylation deficiency 12 and leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome. Among its related pathways are tRNA Aminoacylation and Metabolism. GO annotations related to this gene include nucleotide binding and ligase activity, forming aminoacyl-tRNA and related compounds.

UniProtKB/Swiss-Prot for EARS2 Gene

  • Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EARS2 Gene

Genomics for EARS2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for EARS2 Gene

Enhancers for EARS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EARS2 on UCSC Golden Path with GeneCards custom track

Promoters for EARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EARS2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the EARS2 gene promoter:

Genomic Location for EARS2 Gene

Chromosome:
16
Start:
23,522,013 bp from pter
End:
23,557,731 bp from pter
Size:
35,719 bases
Orientation:
Minus strand

Genomic View for EARS2 Gene

Genes around EARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EARS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EARS2 Gene

Proteins for EARS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JPH6-SYEM_HUMAN
    Recommended name:
    Probable glutamate--tRNA ligase, mitochondrial
    Protein Accession:
    Q5JPH6
    Secondary Accessions:
    • B3KTT2
    • D3DWF1
    • Q86YH3
    • Q8TF31

    Protein attributes for EARS2 Gene

    Size:
    523 amino acids
    Molecular mass:
    58689 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EARS2 Gene

Proteomics data for EARS2 Gene at MOPED

Protein Expression for EARS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for EARS2 Gene

Q5JPH6:

Post-translational modifications for EARS2 Gene

  • Ubiquitination at Lys 480
  • Modification sites at PhosphoSitePlus

Other Protein References for EARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for EARS2 Gene

Gene Families for EARS2 Gene

HGNC:

Protein Domains for EARS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JPH6

UniProtKB/Swiss-Prot:

SYEM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with EARS2: view

Function for EARS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for EARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).
UniProtKB/Swiss-Prot Function:
Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).

Enzyme Numbers (IUBMB) for EARS2 Gene

Gene Ontology (GO) - Molecular Function for EARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA --
GO:0004818 glutamate-tRNA ligase activity IEA,IDA 19805282
GO:0016876 ligase activity, forming aminoacyl-tRNA and related compounds IEA --
GO:0050561 glutamate-tRNA(Gln) ligase activity IDA 19805282
genes like me logo Genes that share ontologies with EARS2: view

Phenotypes for EARS2 Gene

MGI mutant phenotypes for EARS2:
inferred from 1 alleles
GenomeRNAi human phenotypes for EARS2:
genes like me logo Genes that share phenotypes with EARS2: view

Human Phenotype Ontology for EARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EARS2 Gene

MGI Knock Outs for EARS2:

Animal Model Products

  • Taconic Biosciences Mouse Models for EARS2

miRNA for EARS2 Gene

miRTarBase miRNAs that target EARS2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EARS2 Gene

Localization for EARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EARS2 Gene COMPARTMENTS Subcellular localization image for EARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for EARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with EARS2: view

Pathways & Interactions for EARS2 Gene

genes like me logo Genes that share pathways with EARS2: view

Pathways by source for EARS2 Gene

Interacting Proteins for EARS2 Gene

Selected Interacting proteins: Q5JPH6-SYEM_HUMAN for EARS2 Gene via I2D

Gene Ontology (GO) - Biological Process for EARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with EARS2: view

No data available for SIGNOR curated interactions for EARS2 Gene

Drugs & Compounds for EARS2 Gene

Products:

  1. Drug

(6) Drugs for EARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(1) Additional Compounds for EARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
 7664-38-2
genes like me logo Genes that share compounds with EARS2: view

Transcripts for EARS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for EARS2 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EARS2 Gene

Glutamyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EARS2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1:
SP2: - - -
SP3:
SP4: -

Relevant External Links for EARS2 Gene

GeneLoc Exon Structure for
EARS2
ECgene alternative splicing isoforms for
EARS2

Expression for EARS2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for EARS2 Gene

mRNA expression in normal human tissues for EARS2 Gene
mRNA expression by BioGPS for EARS2 GenemRNA expression by GTEx for EARS2 Gene

Protein differential expression in normal tissues from HIPED for EARS2 Gene

This gene is overexpressed in Bone (37.5) and Salivary gland (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for EARS2 Gene



SOURCE GeneReport for Unigene cluster for EARS2 Gene Hs.620541

genes like me logo Genes that share expression patterns with EARS2: view

Protein tissue co-expression partners for EARS2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EARS2 Gene

Orthologs for EARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EARS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia EARS2 35
  • 87.7 (n)
  • 86.42 (a)
EARS2 36
  • 86 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia EARS2 35
  • 86.62 (n)
  • 86.04 (a)
EARS2 36
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ears2 35
  • 85.34 (n)
  • 86.19 (a)
Ears2 16
Ears2 36
  • 85 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia EARS2 35
  • 99.04 (n)
  • 99.04 (a)
EARS2 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ears2 35
  • 85.04 (n)
  • 86.22 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 69 (a)
 OneToMany
-- 36
  • 76 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia EARS2 36
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EARS2 35
  • 69.45 (n)
  • 68.64 (a)
EARS2 36
  • 67 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EARS2 36
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ears2 35
  • 64.03 (n)
  • 64.91 (a)
zebrafish
(Danio rerio)
 Actinopterygii zgc:153247 35
  • 62.26 (n)
  • 60.12 (a)
CABZ01117079.1 36
  • 47 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002570 35
  • 54.55 (n)
  • 48.32 (a)
fruit fly
(Drosophila melanogaster)
 Insecta CG4573 35
  • 53.88 (n)
  • 50.1 (a)
CG4573 36
  • 45 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea ears-2 35
  • 45.89 (n)
  • 40.26 (a)
ears-2 36
  • 38 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AEL338C 35
  • 45.66 (n)
  • 40.6 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F07975g 35
  • 43.28 (n)
  • 38.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSE1 35
  • 42.7 (n)
  • 38.72 (a)
MSE1 36
  • 34 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons ERS 35
  • 44.84 (n)
  • 40.12 (a)
rice
(Oryza sativa)
 Liliopsida Os02g0121000 35
  • 45.94 (n)
  • 40.76 (a)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes mse1 35
  • 43.54 (n)
  • 38.16 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 43 (a)
 OneToOne
Species with no ortholog for EARS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EARS2 Gene

ENSEMBL:
Gene Tree for EARS2 (if available)
TreeFam:
Gene Tree for EARS2 (if available)

Paralogs for EARS2 Gene

(1) SIMAP similar genes for EARS2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with EARS2: view

No data available for Paralogs for EARS2 Gene

Variants for EARS2 Gene

Sequence variations from dbSNP and Humsavar for EARS2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs6497671 - 23,525,363(+) CATAC(C/T)AGATC nc-transcript-variant, reference, missense
VAR_069235 Combined oxidative phosphorylation deficiency 12 (COXPD12)
VAR_069236 Combined oxidative phosphorylation deficiency 12 (COXPD12)
VAR_069237 Combined oxidative phosphorylation deficiency 12 (COXPD12)
VAR_069238 Combined oxidative phosphorylation deficiency 12 (COXPD12)

Structural Variations from Database of Genomic Variants (DGV) for EARS2 Gene

Variant ID Type Subtype PubMed ID
esv990394 CNV Deletion 20482838

Variation tolerance for EARS2 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EARS2 Gene

HapMap Linkage Disequilibrium report
EARS2
Human Gene Mutation Database (HGMD)
EARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EARS2 Gene

Disorders for EARS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYEM_HUMAN
  • Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. {ECO:0000269 PubMed:22492562, ECO:0000269 PubMed:23008233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EARS2

Genetic Association Database (GAD)
EARS2
Human Genome Epidemiology (HuGE) Navigator
EARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EARS2
genes like me logo Genes that share disorders with EARS2: view

No data available for Genatlas for EARS2 Gene

Publications for EARS2 Gene

  1. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (PMID: 22492562) Steenweg M.E. … Zeviani M. (Brain 2012) 2 3 4 67
  2. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. (PMID: 19805282) Nagao A. … Suzuki T. (Proc. Natl. Acad. Sci. U.S.A. 2009) 2 3
  3. Structural bases of transfer RNA-dependent amino acid recognition and activation by glutamyl-tRNA synthetase. (PMID: 17161369) Sekine S. … Yokoyama S. (Structure 2006) 25 26
  4. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L. … Sissler M. (Biochemistry 2005) 2 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for EARS2 Gene

Sources for EARS2 Gene

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