TARS2 - threonyl-tRNA synthetase 2, mitochondrial Gene

Also Known as thrRS; TARSL1; COXPD21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80222

About TARS2

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,487,419-150,507,602 (from NCBI)

This gene has 13 transcripts (splice variants), 110 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 7.6), heart (RPKM 7.5) and 25 other tissues.

Summary

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]

TARS2 Products (3)

mRNA Protein Name
NM_001271895.2 NP_001258824.1 threonine--tRNA ligase, mitochondrial isoform b
NM_001271896.2 NP_001258825.1 threonine--tRNA ligase, mitochondrial isoform c
NM_025150.5 NP_079426.2 threonine--tRNA ligase, mitochondrial isoform a
Molecular Function GO Annotation Evidence References Source
enables aminoacyl-tRNA editing activity IDA
IDA: Inferred from direct assay
26811336 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
26811336 GOA
enables threonine-tRNA ligase activity IDA
IDA: Inferred from direct assay
26811336 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TARS2 Protein Structure

TGS

TGS: TGS domain (61 - 121)

tRNA_SAD

tRNA_SAD: Threonyl and Alanyl tRNA synthetase second additional domain (229 - 275)

tRNA-synt_2b

tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (332 - 497)

HGTP_anticodon

HGTP_anticodon: Anticodon binding domain (615 - 705)

  • 0
  • 200
  • 400
  • 600
  • 718 a.a.
Protein Preferred Names Protein Names

threonine--tRNA ligase, mitochondrial

  • threonyl-tRNA synthetase 2, mitochondrial (putative)

TARS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TARS2 Q9BW92 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
TARS2 Q9BW92 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
TARS2 Q9BW92 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
TARS2 Q9BW92 TARS3 Homo sapiens A2RTX5 32296183
Intra
TARS2 Q9BW92 TARS3 Homo sapiens A2RTX5 32296183
Intra
TARS2 Q9BW92 SYPL1 Homo sapiens Q16563 32296183
Intra
TARS2 Q9BW92 SYPL1 Homo sapiens Q16563 32296183
Intra
TARS2 Q9BW92 SFT2D1 Homo sapiens Q8WV19 32296183
Intra
TARS2 Q9BW92 SFT2D1 Homo sapiens Q8WV19 32296183
Intra
TARS2 Q9BW92 FKBP7 Homo sapiens Q9Y680 32296183
Intra
TARS2 Q9BW92 FKBP7 Homo sapiens Q9Y680 32296183
Intra
TARS2 Q9BW92 FKBP7 Homo sapiens Q9Y680 32296183
Intra
TARS2 Q9BW92 SLC17A9 Homo sapiens Q9BYT1 32296183
Intra
TARS2 Q9BW92 SLC17A9 Homo sapiens Q9BYT1 32296183
Intra
TARS2 Q9BW92 SLC17A9 Homo sapiens Q9BYT1 32296183
Intra
TARS2 Q9BW92 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TARS2 Q9BW92 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TARS2 Q9BW92 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TARS2 Q9BW92 ARL6IP1 Homo sapiens Q15041 32296183
Intra
TARS2 Q9BW92 ARL6IP1 Homo sapiens Q15041 32296183
Intra
TARS2 Q9BW92 PLIN3 Homo sapiens O60664 32296183
Intra
TARS2 Q9BW92 PLIN3 Homo sapiens O60664 32296183
Intra
TARS2 Q9BW92 DDIT4L Homo sapiens Q96D03 32296183
Intra
TARS2 Q9BW92 DDIT4L Homo sapiens Q96D03 32296183
Intra
TARS2 Q9BW92 MAL2 Homo sapiens Q969L2 32296183
Intra
TARS2 Q9BW92 MAL2 Homo sapiens Q969L2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 21
  • COXPD21

  • Combined Oxidative Phosphorylation Defect Type 21

  • Combined Oxidative Phosphorylation Deficiency, Type 21

Combined Oxidative Phosphorylation Deficiency
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
  • MLASA2

  • Myopathy With Lactic Acidosis And Sideroblastic Anemia 2

  • Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Antisynthetase Syndrome
  • As Syndrome

  • Anti-Jo1 Syndrome

Combined Oxidative Phosphorylation Deficiency 12
  • COXPD12

  • Ltbl

  • Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

  • Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

  • Combined Oxidative Phosphorylation Defect Type 12

  • Combined Oxidative Phosphorylation Deficiency, Type 12

Perrault Syndrome
  • Gonadal Dysgenesis, Xx Type, With Deafness

  • Ovarian Dysgenesis With Sensorineural Deafness

  • Gonadal Dysgenesis, Xx Type

  • Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

  • Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

  • Xx Gonodal Dysgenesis-Deafness Syndrome

  • Xx Gonodal Dysgenesis-Hearing Loss Syndrome

  • Gonadal Dysgenesis Xx Type Deafness

Mitochondrial Encephalomyopathy
  • Mitochondrial Encephalomyopathies

  • Encephalomyopathy, Mitochondrial

Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TARS2 RGD RGD:1308283
Canis familiaris TARS2 VGNC VGNC:49110
Macaca mulatta TARS2 VGNC VGNC:78255
Felis catus TARS2 VGNC VGNC:65956
Bos taurus TARS2 VGNC VGNC:49571
Mus musculus TARS2 MGD MGI:1919057
Others TARS2 NCBI