This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012] See more...

Aliases for TARS2 Gene

Aliases for TARS2 Gene

  • Threonyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Threonyl-TRNA Synthetase-Like 1 2 3 4
  • Threonine--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.3 4 51
  • TARSL1 3 4
  • ThrRS 3 4
  • Threonyl-TRNA Synthetase 2, Mitochondrial (Putative) 3
  • Threonine TRNA Ligase 2, Mitochondrial 2
  • Threonyl-TRNA Synthetase 4
  • FLJ12528 2
  • COXPD21 3
  • TARS2 5

External Ids for TARS2 Gene

Previous HGNC Symbols for TARS2 Gene

  • TARSL1

Previous GeneCards Identifiers for TARS2 Gene

  • GC01P148727
  • GC01P121838

Summaries for TARS2 Gene

Entrez Gene Summary for TARS2 Gene

  • This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

GeneCards Summary for TARS2 Gene

TARS2 (Threonyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with TARS2 include Combined Oxidative Phosphorylation Deficiency 21 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is TARS3.

UniProtKB/Swiss-Prot Summary for TARS2 Gene

  • Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TARS2 Gene

Genomics for TARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TARS2

Top Transcription factor binding sites by QIAGEN in the TARS2 gene promoter:
  • C/EBPbeta
  • Elk-1
  • GATA-3
  • Gfi-1
  • HNF-3beta
  • Pax-6
  • Pbx1a
  • SRF
  • SRF (504 AA)
  • Zic3

Genomic Locations for TARS2 Gene

Genomic Locations for TARS2 Gene
chr1:150,487,364-150,507,609
(GRCh38/hg38)
Size:
20,246 bases
Orientation:
Plus strand
chr1:150,459,887-150,480,078
(GRCh37/hg19)
Size:
20,192 bases
Orientation:
Plus strand

Genomic View for TARS2 Gene

Genes around TARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TARS2 Gene

Proteins for TARS2 Gene

  • Protein details for TARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW92-SYTM_HUMAN
    Recommended name:
    Threonine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9BW92
    Secondary Accessions:
    • Q53GW7
    • Q96I50
    • Q9H9V2

    Protein attributes for TARS2 Gene

    Size:
    718 amino acids
    Molecular mass:
    81036 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for TARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TARS2 Gene

Selected DME Specific Peptides for TARS2 Gene

Q9BW92:
  • QLDFQLP
  • SPGSCFFLP
  • HRPRSWRE
  • GDGAFYGPK
  • WEQSGHW
  • LKPMNCP
  • TIQLDFQ
  • AFYGPKID
  • KPMNCPAH
  • QDDAHIF
  • DDAHIFC

Post-translational modifications for TARS2 Gene

  • Ubiquitination at Lys169, Lys215, and Lys572
  • Modification sites at PhosphoSitePlus

Domains & Families for TARS2 Gene

Gene Families for TARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TARS2 Gene

InterPro:
Blocks:
  • Anticodon binding domain
  • Threonyl-tRNA synthetase signature
  • TGS domain
ProtoNet:

Suggested Antigen Peptide Sequences for TARS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52892, highly similar to Homo sapiens threonyl-tRNA synthetase-like 1 (TARSL1), mRNA (B4DQF3_HUMAN)
  • cDNA FLJ12528 fis, clone NT2RM4000155, moderately similar to THREONYL-TRNA SYNTHETASE, CYTOPLASMIC (EC 6.1.1.3) (Q9H9V2_HUMAN)
  • Threonyl-tRNA synthetase-like 1 (SYTM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BW92

UniProtKB/Swiss-Prot:

SYTM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with TARS2: view

Function for TARS2 Gene

Molecular function for TARS2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + H(+) + L-threonyl-tRNA(Thr); Xref=Rhea:RHEA:24624, Rhea:RHEA-COMP:9670, Rhea:RHEA-COMP:9704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57926, ChEBI:CHEBI:78442, ChEBI:CHEBI:78534, ChEBI:CHEBI:456215; EC=6.1.1.3; Evidence={ECO:0000269|PubMed:26811336};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.5 mM for L-threonine {ECO:0000269|PubMed:26811336}; KM=1.1 uM for tRNA(Thr) {ECO:0000269|PubMed:26811336}; KM=180 mM for L-serine {ECO:0000269|PubMed:26811336}; Note=kcat is 5.8 sec(-1) for the activation reaction of L-threonine. kcat is 1.1 sec(-1) for the activation reaction of L-serine. kcat is 0.061 sec(-1) for the aminoacylation of tRNA(Thr) with L-threonine. {ECO:0000269|PubMed:26811336};

Enzyme Numbers (IUBMB) for TARS2 Gene

Phenotypes From GWAS Catalog for TARS2 Gene

Gene Ontology (GO) - Molecular Function for TARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IDA 26811336
GO:0004812 aminoacyl-tRNA ligase activity IEA,IBA 21873635
GO:0004829 threonine-tRNA ligase activity IEA,IDA 26811336
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TARS2: view
genes like me logo Genes that share phenotypes with TARS2: view

Human Phenotype Ontology for TARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TARS2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARS2

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TARS2 Gene

Localization for TARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TARS2 gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with TARS2: view

Pathways & Interactions for TARS2 Gene

PathCards logo

SuperPathways for TARS2 Gene

genes like me logo Genes that share pathways with TARS2: view

Pathways by source for TARS2 Gene

1 KEGG pathway for TARS2 Gene

Gene Ontology (GO) - Biological Process for TARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,IBA 21873635
GO:0006435 threonyl-tRNA aminoacylation IEA,IBA 21873635
GO:0043039 tRNA aminoacylation IEA --
GO:0070159 mitochondrial threonyl-tRNA aminoacylation TAS 15779907
genes like me logo Genes that share ontologies with TARS2: view

No data available for SIGNOR curated interactions for TARS2 Gene

Drugs & Compounds for TARS2 Gene

(4) Drugs for TARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Threonine Approved Nutra Target 35
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for TARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with TARS2: view

Transcripts for TARS2 Gene

mRNA/cDNA for TARS2 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARS2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TARS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^
SP1: - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - -
SP8: - -
SP9: - - -
SP10:
SP11: -
SP12:
SP13:
SP14: - - - -

ExUns: 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for TARS2 Gene

GeneLoc Exon Structure for
TARS2

Expression for TARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TARS2 Gene

Protein differential expression in normal tissues from HIPED for TARS2 Gene

This gene is overexpressed in Lymph node (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TARS2 Gene



Protein tissue co-expression partners for TARS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TARS2

SOURCE GeneReport for Unigene cluster for TARS2 Gene:

Hs.288974

Evidence on tissue expression from TISSUES for TARS2 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(4.3)
  • Blood(2.2)
  • Muscle(2.2)
  • Heart(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
  • liver
genes like me logo Genes that share expression patterns with TARS2: view

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 TARS2 Gene

Orthologs for TARS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TARS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TARS2 30 31
  • 99.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TARS2 30 31
  • 88.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TARS2 30 31
  • 88.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tars2 30 17 31
  • 83.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tars2 30
  • 83.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia TARS2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TARS2 30 31
  • 62.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TARS2 31
  • 59 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii TARS2 31
  • 56 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-thr 31
  • 47 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea tars-1 31
  • 46 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THS1 31
  • 44 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
Species where no ortholog for TARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TARS2 Gene

ENSEMBL:
Gene Tree for TARS2 (if available)
TreeFam:
Gene Tree for TARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TARS2: view image

Paralogs for TARS2 Gene

Paralogs for TARS2 Gene

(3) SIMAP similar genes for TARS2 Gene using alignment to 7 proteins:

  • SYTM_HUMAN
  • B4DQF3_HUMAN
  • Q5T5E9_HUMAN
  • Q5T5F2_HUMAN
  • Q9H9V2_HUMAN
  • U3KQ50_HUMAN
  • U3KQG0_HUMAN

Pseudogenes.org Pseudogenes for TARS2 Gene

genes like me logo Genes that share paralogs with TARS2: view

Variants for TARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TARS2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
668595 Likely Benign: not provided 150,491,112(+) A/G INTRON_VARIANT
676423 Benign: not provided 150,487,239(+) T/C
676424 Benign: not provided 150,491,296(+) C/G INTRON_VARIANT
676425 Benign: not provided 150,496,366(+) A/G INTRON_VARIANT
676426 Benign: not provided 150,497,004(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TARS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TARS2 Gene

Variant ID Type Subtype PubMed ID
nsv1006838 CNV gain 25217958

Variation tolerance for TARS2 Gene

Residual Variation Intolerance Score: 7.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TARS2 Gene

Human Gene Mutation Database (HGMD)
TARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TARS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TARS2 Gene

Disorders for TARS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TARS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYTM_HUMAN
  • Combined oxidative phosphorylation deficiency 21 (COXPD21) [MIM:615918]: A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. {ECO:0000269 PubMed:24827421, ECO:0000269 PubMed:26811336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TARS2: view

No data available for Genatlas for TARS2 Gene

Publications for TARS2 Gene

  1. A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects. (PMID: 26811336) Wang Y … Wang ED (The Journal of biological chemistry 2016) 2 3 4
  2. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (PMID: 24827421) Diodato D … Ghezzi D (Human mutation 2014) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 41
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for TARS2 Gene

  • Signalway ELISA kits for TARS2
  • Signalway Proteins for TARS2

Sources for TARS2 Gene