• Gene id: 80222

Gene Summary

• Gene Symbol: TARS2   Gene   UCSC   Ensembl
• Aliases: COXPD21, TARSL1, thrRS
• Gene name: threonyl-tRNA synthetase 2, mitochondrial
• Alternate names: threonine--tRNA ligase, mitochondrial, threonyl-tRNA synthetase 2, mitochondrial (putative), threonyl-tRNA synthetase-like 1,
• Gene location: 1q21.2 (150487410: 150507608)     Exons: 18     NC_000001.11
• Gene summary(Entrez): 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 chromo
• OMIM: 616927

Protein Summary

• Protein general information: Q9BW92  
  • Name: Threonine tRNA ligase, mitochondrial (EC 6.1.1.3) (Threonyl tRNA synthetase) (ThrRS) (Threonyl tRNA synthetase like 1)
  • Length: 718  
  • Mass: 81036
• Sequence:

  MALYQRWRCLRLQGLQACRLHTAVVSTPPRWLAERLGLFEELWAAQVKRLASMAQKEPRTIKISLPGGQKIDAVA
  WNTTPYQLARQISSTLADTAVAAQVNGEPYDLERPLETDSDLRFLTFDSPEGKAVFWHSSTHVLGAAAEQFLGAV
  LCRGPSTEYGFYHDFFLGKERTIRGSELPVLERICQELTAAARPFRRLEASRDQLRQLFKDNPFKLHLIEEKVTG
  PTATVYGCGTLVDLCQGPHLRHTGQIGGLKLLSNSSSLWRSSGAPETLQRVSGISFPTTELLRVWEAWREEAELR
  DHRRIGKEQELFFFHELSPGSCFFLPRGTRVYNALVAFIRAEYAHRGFSEVKTPTLFSTKLWEQSGHWEHYQEDM
  FAVQPPGSDRPPSSQSDDSTRHITDTLALKPMNCPAHCLMFAHRPRSWRELPLRLADFGALHRAEASGGLGGLTR
  LRCFQQDDAHIFCTTDQLEAEIQSCLDFLRSVYAVLGFSFRLALSTRPSGFLGDPCLWDQAEQVLKQALKEFGEP
  WDLNSGDGAFYGPKIDVHLHDALGRPHQCGTIQLDFQLPLRFDLQYKGQAGALERPVLIHRAVLGSVERLLGVLA
  ESCGGKWPLWLSPFQVVVIPVGSEQEEYAKEAQQSLRAAGLVSDLDADSGLTLSRRIRRAQLAHYNFQFVVGQKE
  QSKRTVNIRTRDNRRLGEWDLPEAVQRLVELQNTRVPNAEEIF

• Structural information:
  • Protein Domains: (55..12-)
    (/note="TGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01228"-)
  • Interpro: IPR002314  IPR006195  IPR004154  IPR036621  IPR012675   IPR004095  IPR012676  IPR002320  IPR018163  IPR033728  IPR012947  
  • Prosite: PS50862 PS51880
  • CDD: cd00771
  • STRING: ENSP00000358060
• Other Databases: GeneCards:  TARS2  Malacards:  TARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006435	threonyl-tRNA aminoacylation	IBA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IBA	molecular function
GO:0004829	threonine-tRNA ligase activity	IBA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IBA	biological process
GO:0004829	threonine-tRNA ligase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IDA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004829	threonine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0043039	tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006435	threonyl-tRNA aminoacylation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0004829	threonine-tRNA ligase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070159	mitochondrial threonyl-tRNA aminoacylation	TAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq