Human Gene EARS2 (ENST00000449606.7_8) from GENCODE V47lift37
  Description: glutamyl-tRNA synthetase 2, mitochondrial, transcript variant 1 (from RefSeq NM_001083614.2)
Gencode Transcript: ENST00000449606.7_8
Gencode Gene: ENSG00000103356.18_9
Transcript (Including UTRs)
   Position: hg19 chr16:23,532,075-23,568,671 Size: 36,597 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr16:23,535,692-23,568,664 Size: 32,973 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:23,532,075-23,568,671)mRNA (may differ from genome)Protein (523 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYEM_HUMAN
DESCRIPTION: RecName: Full=Probable glutamate--tRNA ligase, mitochondrial; EC=6.1.1.17; AltName: Full=Glutamyl-tRNA synthetase; Short=GluRS; Flags: Precursor;
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) (By similarity).
CATALYTIC ACTIVITY: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).
SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity).
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EARS2
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 12* (1692), combined oxidative phosphorylation deficiency (19), streptococcal meningitis (16), external ear disease (8), otitis externa (7), encephalomalacia (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 231.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1062.243617-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008925 - aa-tRNA-synth_I_codon-bd
IPR020751 - aa-tRNA-synth_I_codon-bd_sub2
IPR001412 - aa-tRNA-synth_I_CS
IPR004527 - Glu-tRNA-ligase_Ib_bac/mito
IPR000924 - Glu/Gln-tRNA-synth_Ib
IPR020061 - Glu/Gln-tRNA-synth_Ib_a-bdl
IPR020058 - Glu/Gln-tRNA-synth_Ib_cat-dom
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF00749 - tRNA synthetases class I (E and Q), catalytic domain
PF19269 - Anticodon binding domain

SCOP Domains:
48163 - An anticodon-binding domain of class I aminoacyl-tRNA synthetases
52374 - Nucleotidylyl transferase

ModBase Predicted Comparative 3D Structure on Q5JPH6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004818 glutamate-tRNA ligase activity
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0050561 glutamate-tRNA(Gln) ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006424 glutamyl-tRNA aminoacylation
GO:0043039 tRNA aminoacylation
GO:0070127 tRNA aminoacylation for mitochondrial protein translation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  JD365278 - Sequence 346302 from Patent EP1572962.
JD047763 - Sequence 28787 from Patent EP1572962.
JD047764 - Sequence 28788 from Patent EP1572962.
JD238439 - Sequence 219463 from Patent EP1572962.
JD238440 - Sequence 219464 from Patent EP1572962.
JD179826 - Sequence 160850 from Patent EP1572962.
JD117133 - Sequence 98157 from Patent EP1572962.
BX648129 - Homo sapiens mRNA; cDNA DKFZp686J1940 (from clone DKFZp686J1940).
AL832489 - Homo sapiens mRNA; cDNA DKFZp686C2322 (from clone DKFZp686C2322).
BC020592 - Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone IMAGE:4427967), containing frame-shift errors.
AK095998 - Homo sapiens cDNA FLJ38679 fis, clone KIDNE2000252, highly similar to Glutamyl tRNA synthetase.
AB075850 - Homo sapiens mRNA for KIAA1970 protein.
JD055394 - Sequence 36418 from Patent EP1572962.
JD468749 - Sequence 449773 from Patent EP1572962.
AF088053 - Homo sapiens full length insert cDNA clone ZD64D01.
JD085481 - Sequence 66505 from Patent EP1572962.
JD429877 - Sequence 410901 from Patent EP1572962.
JD068570 - Sequence 49594 from Patent EP1572962.
AB384339 - Synthetic construct DNA, clone: pF1KSDA1970, Homo sapiens EARS2 gene for glutamyl-tRNA synthetase, complete cds, without stop codon, in Flexi system.
EU832445 - Synthetic construct Homo sapiens clone HAIB:100067474; DKFZo008A0229 glutamyl-tRNA synthetase 2, mitochondrial (putative) protein (EARS2) gene, encodes complete protein; nuclear gene for mitochondrial product.
EU832528 - Synthetic construct Homo sapiens clone HAIB:100067557; DKFZo004A0230 glutamyl-tRNA synthetase 2, mitochondrial (putative) protein (EARS2) gene, encodes complete protein; nuclear gene for mitochondrial product.
BC040013 - Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:48905 IMAGE:5728326), complete cds.
JF432834 - Synthetic construct Homo sapiens clone IMAGE:100074153 glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2) gene, encodes complete protein.
KJ903711 - Synthetic construct Homo sapiens clone ccsbBroadEn_13105 EARS2 gene, encodes complete protein.
CU691806 - Synthetic construct Homo sapiens gateway clone IMAGE:100021173 5' read EARS2 mRNA.
JD461749 - Sequence 442773 from Patent EP1572962.
JD357886 - Sequence 338910 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein Q5JPH6 (Reactome details) participates in the following event(s):

R-HSA-380216 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379726 Mitochondrial tRNA aminoacylation
R-HSA-379724 tRNA Aminoacylation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B3KTT2, D3DWF1, EARS2 , ENST00000449606.1, ENST00000449606.2, ENST00000449606.3, ENST00000449606.4, ENST00000449606.5, ENST00000449606.6, KIAA1970 , NM_001083614, Q5JPH6, Q86YH3, Q8TF31, SYEM_HUMAN, uc320rch.1, uc320rch.2
UCSC ID: ENST00000449606.7_8
RefSeq Accession: NM_001083614.2
Protein: Q5JPH6 (aka SYEM_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.