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Aliases for TARS2 Gene

Aliases for TARS2 Gene

  • Threonyl-TRNA Synthetase 2, Mitochondrial 2 3
  • Threonyl-TRNA Synthetase-Like 1 2 3 4
  • Threonyl-TRNA Synthetase 2, Mitochondrial (Putative) 3 5
  • EC 6.1.1.3 4 56
  • TARSL1 3 4
  • ThrRS 3 4
  • Threonine TRNA Ligase 2, Mitochondrial 2
  • Threonine--TRNA Ligase, Mitochondrial 3
  • Threonyl-TRNA Synthetase 4
  • COXPD21 3

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. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is TARSL2.

UniProtKB/Swiss-Prot 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.

Additional gene information for TARS2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TARS2 Gene

Genomics for TARS2 Gene

GeneHancer (GH) Regulatory Elements for TARS2 Gene

Promoters and enhancers for TARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I150486 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.6 +0.3 276 1.7 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TARS2 SETDB1 PRPF3 GABPB2 PIP5K1A SF3B4 PI4KB ZNF687 UBE2D3P3 RPRD2
GH01I150232 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.1 -252.2 -252228 4.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ANP32E GC01P150237 RNU2-17P SETDB1 PRPF3 PIP5K1A GABPB2 SF3B4 ARNT UBE2D3P3
GH01I150320 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 6.9 -165.6 -165608 2.4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 PRPF3 GABPB2 SETDB1 PIP5K1A UBE2D3P3 RPRD2 GOLPH3L SF3B4 ARNT ZNF687
GH01I150362 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7 -122.6 -122557 5.2 CLOCK FEZF1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ZC3H11A RPRD2 PRPF3 SETDB1 SF3B4 PI4KB ZNF687 UBE2D3P3 PIP5K1A ARNT HIST2H2AB
GH01I150292 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.9 -193.6 -193560 2.2 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B MRPS21 LOC105371434 ADAMTSL4 TARS2 SEMA6C HORMAD1 PRPF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TARS2 gene promoter:

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)

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 isoforms=2169, isoforms=215, and isoforms=2572
  • 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

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 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};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + L-threonyl-tRNA(Thr).
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.

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:0002161 aminoacyl-tRNA editing activity IDA 26811336
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004829 threonine-tRNA ligase activity IEA,IDA 26811336
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity 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

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 5
cytosol 3
cytoskeleton 2
nucleus 2

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 IBA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with TARS2: view

Pathways & Interactions 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 --
GO:0006435 threonyl-tRNA aminoacylation IEA --
GO:0006450 regulation of translational fidelity IEA --
GO:0043039 tRNA aminoacylation IEA --
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
L-Threonine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with TARS2: view

Transcripts for TARS2 Gene

Unigene Clusters for TARS2 Gene

Threonyl-tRNA synthetase 2, mitochondrial (putative):
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
TARS2

Expression for TARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TARS2 Gene



Protein tissue co-expression partners for TARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TARS2 Gene:

TARS2

SOURCE GeneReport for Unigene cluster for TARS2 Gene:

Hs.288974

Evidence on tissue expression from TISSUES for TARS2 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(4.2)

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

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 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 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia TARS2 33 34
  • 88.25 (n)
dog
(Canis familiaris)
Mammalia TARS2 33 34
  • 88.07 (n)
mouse
(Mus musculus)
Mammalia Tars2 33 16 34
  • 83.75 (n)
rat
(Rattus norvegicus)
Mammalia Tars2 33
  • 83.38 (n)
oppossum
(Monodelphis domestica)
Mammalia TARS2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TARS2 33 34
  • 62.54 (n)
lizard
(Anolis carolinensis)
Reptilia TARS2 34
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TARS2 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aats-thr 34
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tars-1 34
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THS1 34
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
ManyToMany
Species where no ortholog for TARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TARS2 Gene

Paralogs for TARS2 Gene

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

Pseudogenes.org Pseudogenes for TARS2 Gene

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

Variants for TARS2 Gene

Sequence variations from dbSNP and Humsavar for TARS2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs115390773 likely-benign, not specified, not provided 150,497,543(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs587777593 pathogenic, Combined oxidative phosphorylation deficiency 21, Combined oxidative phosphorylation deficiency 21 (COXPD21) [MIM:615918] 150,496,552(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs587777594 pathogenic, Combined oxidative phosphorylation deficiency 21 150,491,665(+) A/G intron_variant
rs367870620 likely-pathogenic, not provided 150,504,669(+) C/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs1042740553 likely-benign, not specified 150,507,049(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

(1) MalaCards diseases for TARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 21
  • coxpd21
- 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
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 58
  2. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (PMID: 24827421) Diodato D … Ghezzi D (Human mutation 2014) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 44 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for TARS2 Gene

Sources for TARS2 Gene

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