Human Gene TARS2 (ENST00000369064.8_4) from GENCODE V47lift37
  Description: threonyl-tRNA synthetase 2, mitochondrial, transcript variant 5 (from RefSeq NR_073514.2)
Gencode Transcript: ENST00000369064.8_4
Gencode Gene: ENSG00000143374.18_11
Transcript (Including UTRs)
   Position: hg19 chr1:150,459,895-150,480,078 Size: 20,184 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr1:150,459,927-150,479,540 Size: 19,614 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:150,459,895-150,480,078)mRNA (may differ from genome)Protein (718 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYTM_HUMAN
DESCRIPTION: RecName: Full=Threonine--tRNA ligase, mitochondrial; EC=6.1.1.3; AltName: Full=Threonyl-tRNA synthetase; Short=ThrRS; AltName: Full=Threonyl-tRNA synthetase-like 1; Flags: Precursor;
CATALYTIC ACTIVITY: ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + L-threonyl-tRNA(Thr).
SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity).
SIMILARITY: Belongs to the class-II 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: TARS2
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 21* (1730)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 24.15 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 491.65 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.1032-0.066 Picture PostScript Text
3' UTR -175.40538-0.326 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
IPR002314 - aa-tRNA-synt_IIb_cons-dom
IPR006195 - aa-tRNA-synth_II
IPR004154 - Anticodon-bd
IPR012675 - Beta-grasp_dom
IPR004095 - TGS
IPR012676 - TGS-like
IPR002320 - Thr-tRNA-ligase_IIa
IPR018163 - Thr/Ala-tRNA-synth_IIc_edit
IPR012947 - tRNA_SAD

Pfam Domains:
PF00587 - tRNA synthetase class II core domain (G, H, P, S and T)
PF02824 - TGS domain
PF03129 - Anticodon binding domain
PF07973 - Threonyl and Alanyl tRNA synthetase second additional domain

SCOP Domains:
52954 - Class II aaRS ABD-related
55681 - Class II aaRS and biotin synthetases
81271 - TGS-like
55186 - ThrRS/AlaRS common domain

ModBase Predicted Comparative 3D Structure on Q9BW92
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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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004829 threonine-tRNA ligase activity
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006435 threonyl-tRNA aminoacylation
GO:0043039 tRNA aminoacylation
GO:0070159 mitochondrial threonyl-tRNA aminoacylation

Cellular Component:
GO:0005575 cellular_component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK298773 - Homo sapiens cDNA FLJ52892 complete cds, highly similar to Homo sapiens threonyl-tRNA synthetase-like 1 (TARSL1), mRNA.
AK022590 - Homo sapiens cDNA FLJ12528 fis, clone NT2RM4000155, moderately similar to THREONYL-TRNA SYNTHETASE, CYTOPLASMIC (EC 6.1.1.3).
BC000541 - Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:3031 IMAGE:3163506), complete cds.
AK315507 - Homo sapiens cDNA, FLJ96572.
AK222814 - Homo sapiens mRNA for threonyl-tRNA synthetase-like 1 variant, clone: HEP06840.
AY450558 - Homo sapiens threonyl-tRNA synthetase mRNA, complete cds.
AK225368 - Homo sapiens mRNA for Hypothetical protein FLJ12528 variant, clone: HEP15691.
BC009997 - Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:15034 IMAGE:4128881), complete cds.
AB384782 - Synthetic construct DNA, clone: pF1KB3307, Homo sapiens TARS2 gene for threonyl-tRNA synthetase, complete cds, without stop codon, in Flexi system.
BC007824 - Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone IMAGE:2821973), partial cds.
AL512732 - Homo sapiens mRNA; cDNA DKFZp667F1511 (from clone DKFZp667F1511).
JD443152 - Sequence 424176 from Patent EP1572962.
JD386817 - Sequence 367841 from Patent EP1572962.
JD254512 - Sequence 235536 from Patent EP1572962.
JD133583 - Sequence 114607 from Patent EP1572962.
JD165775 - Sequence 146799 from Patent EP1572962.
JD236075 - Sequence 217099 from Patent EP1572962.
JD088404 - Sequence 69428 from Patent EP1572962.
JD533682 - Sequence 514706 from Patent EP1572962.
JD487163 - Sequence 468187 from Patent EP1572962.
JD511444 - Sequence 492468 from Patent EP1572962.
JD092538 - Sequence 73562 from Patent EP1572962.
JD430339 - Sequence 411363 from Patent EP1572962.
JD557464 - Sequence 538488 from Patent EP1572962.
JD529458 - Sequence 510482 from Patent EP1572962.
JD169747 - Sequence 150771 from Patent EP1572962.
JD169748 - Sequence 150772 from Patent EP1572962.
JD125747 - Sequence 106771 from Patent EP1572962.
JD395496 - Sequence 376520 from Patent EP1572962.
JD152443 - Sequence 133467 from Patent EP1572962.
JD408218 - Sequence 389242 from Patent EP1572962.
JD408219 - Sequence 389243 from Patent EP1572962.
JD384094 - Sequence 365118 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q9BW92 (Reactome details) participates in the following event(s):

R-HSA-380201 threonine + tRNA(Thr) + ATP => Thr-tRNA(Thr) + 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: ENST00000369064.1, ENST00000369064.2, ENST00000369064.3, ENST00000369064.4, ENST00000369064.5, ENST00000369064.6, ENST00000369064.7, NR_073514, Q53GW7, Q96I50, Q9BW92, Q9H9V2, SYTM_HUMAN, TARSL1, uc318hhp.1, uc318hhp.2
UCSC ID: ENST00000369064.8_4
RefSeq Accession: NM_025150.5
Protein: Q9BW92 (aka SYTM_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.