TARS2

Protein identityUniProt · HPA

UniProt accession

Q9BW92

Gene

TARS2

Ensembl

ENSG00000143374

Chromosome

1

Canonical length

718 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

718 residues, UniProt reviewed canonical sequence.

>Q9BW92|TARS2
     1  MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAERLGLFE ELWAAQVKRL ASMAQKEPRT
    61  IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
   121  TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
   181  LERICQELTA AARPFRRLEA SRDQLRQLFK DNPFKLHLIE EKVTGPTATV YGCGTLVDLC
   241  QGPHLRHTGQ IGGLKLLSNS SSLWRSSGAP ETLQRVSGIS FPTTELLRVW EAWREEAELR
   301  DHRRIGKEQE LFFFHELSPG SCFFLPRGTR VYNALVAFIR AEYAHRGFSE VKTPTLFSTK
   361  LWEQSGHWEH YQEDMFAVQP PGSDRPPSSQ SDDSTRHITD TLALKPMNCP AHCLMFAHRP
   421  RSWRELPLRL ADFGALHRAE ASGGLGGLTR LRCFQQDDAH IFCTTDQLEA EIQSCLDFLR
   481  SVYAVLGFSF RLALSTRPSG FLGDPCLWDQ AEQVLKQALK EFGEPWDLNS GDGAFYGPKI
   541  DVHLHDALGR PHQCGTIQLD FQLPLRFDLQ YKGQAGALER PVLIHRAVLG SVERLLGVLA
   601  ESCGGKWPLW LSPFQVVVIP VGSEQEEYAK EAQQSLRAAG LVSDLDADSG LTLSRRIRRA
   661  QLAHYNFQFV VGQKEQSKRT VNIRTRDNRR LGEWDLPEAV QRLVELQNTR VPNAEEIF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TARS2.

Disease | AllUniProt

Conditions TARS2 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 21 (COXPD21) MIM:615918

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 349 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation defect type 21

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.84

gnomAD pLI

0

gnomAD missense Z

1.77

DepMap mean gene effect

-0.48

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• threonyl-tRNA aminoacylation
• mitochondrial threonyl-tRNA aminoacylation

Molecular functions

• aminoacyl-tRNA deacylase activity
• ATP binding
• protein homodimerization activity
• threonine-tRNA ligase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)
• Threonine-tRNA ligase, class IIa
• TGS
• Anticodon-binding
• Aminoacyl-tRNA synthetase, class II
• Beta-grasp domain superfamily
• TGS-like
• Threonyl/alanyl tRNA synthetase, SAD
• Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
• Threonine-tRNA ligase catalytic core domain
• Anticodon-binding domain superfamily
• Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
• Threonine-tRNA ligase, class IIa, anticodon-binding domain
• tRNA synthetase class II core domain (G, H, P, S and T)
• TGS domain
• Anticodon binding domain
• Threonyl and Alanyl tRNA synthetase second additional domain

KeywordsUniProt

• Aminoacyl-tRNA synthetase
• ATP-binding
• Ligase
• Mitochondrion
• Nucleotide-binding
• Phosphoprotein
• Primary mitochondrial disease
• Protein biosynthesis
• Transit peptide