TARS2
gene geneOn this page
Also known as FLJ12528
Summary
TARS2 (threonyl-tRNA synthetase 2, mitochondrial, HGNC:30740) is a protein-coding gene on chromosome 1q21.2, encoding Threonine–tRNA ligase, mitochondrial (Q9BW92). 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). It is a selective cancer dependency (DepMap: 73.8% of cell lines).
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.
Source: NCBI Gene 80222 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 17
- Clinical variants (ClinVar): 352 total — 2 pathogenic, 16 likely-pathogenic (top 9% of genes corpus-wide)
- GTEx eGene: eQTL in 39 tissues, sQTL in 15 (q < 0.05)
- Phenotypes (HPO): 16
- Cancer dependency (DepMap): dependent in 73.8% of screened cell lines
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.76 (unconstrained)
- MANE Select transcript:
NM_025150
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30740 |
| Approved symbol | TARS2 |
| Name | threonyl-tRNA synthetase 2, mitochondrial |
| Location | 1q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12528 |
| Ensembl gene | ENSG00000143374 |
| Ensembl biotype | protein_coding |
| OMIM | 612805 |
| Entrez | 80222 |
Gene structure
Transcript identifiers
Ensembl transcripts: 57 — 28 protein_coding, 21 nonsense_mediated_decay, 5 retained_intron, 3 protein_coding_CDS_not_defined
MANE Select: ENST00000369064
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 4, TSL 3: 2, TSL 5: 5
ENST00000369064, ENST00000369051, ENST00000369053, ENST00000369054, ENST00000460794, ENST00000462578, ENST00000463555, ENST00000466989, ENST00000467982, ENST00000479372, ENST00000480070, ENST00000483046, ENST00000606933, ENST00000895420, ENST00000895421, ENST00000895422, ENST00000895423, ENST00000895424, ENST00000895425, ENST00000895426, ENST00000895427, ENST00000895428, ENST00000923165, ENST00000923166, ENST00000923167, ENST00000923168, ENST00000923169, ENST00000923170, ENST00000923171, ENST00000923172, ENST00000923173, ENST00000948114, ENST00000984830, ENST00000984831, ENST00000984832, ENST00000984833, ENST00000984834, ENST00000984835, ENST00001020868, ENST00001020870, ENST00001020872, ENST00001020874, ENST00001020875, ENST00001020876, ENST00001075501, ENST00001075502, ENST00001075503, ENST00001075504, ENST00001075505, ENST00001075506, ENST00001075507, ENST00001103294, ENST00001103295, ENST00001103296, ENST00001126752, ENST00001126753, ENST00001142906
RefSeq mRNA: 3 — MANE Select: NM_025150
NM_001271895, NM_001271896, NM_025150
CCDS: CCDS60251, CCDS60252, CCDS952
Canonical transcript exons
ENST00000369064 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000959658 | 150490601 | 150490725 |
| ENSE00001448725 | 150506916 | 150507602 |
| ENSE00002228064 | 150487419 | 150487516 |
| ENSE00003458298 | 150496482 | 150496628 |
| ENSE00003482095 | 150491394 | 150491511 |
| ENSE00003604445 | 150496810 | 150496908 |
| ENSE00003667634 | 150491598 | 150491662 |
| ENSE00003694893 | 150497530 | 150497747 |
| ENSE00003695801 | 150492411 | 150492489 |
| ENSE00003696240 | 150505591 | 150505705 |
| ENSE00003696402 | 150504906 | 150504978 |
| ENSE00003696948 | 150499216 | 150499293 |
| ENSE00003698259 | 150498502 | 150498664 |
| ENSE00003700057 | 150504335 | 150504435 |
| ENSE00003700321 | 150488964 | 150489087 |
| ENSE00003700676 | 150498897 | 150499034 |
| ENSE00003702024 | 150504632 | 150504733 |
| ENSE00003723358 | 150487858 | 150488054 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 91.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.6934 / max 463.3193, expressed in 1811 samples.
Highest expression (Bgee): gastrocnemius, apex of heart, muscle of leg, hindlimb stylopod muscle, cerebellar vermis.
Genetic regulation across tissues (GTEx eQTL / sQTL)
TARS2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 39 tissues and its splicing (sQTL) in 15 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 54 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 1.8e-23 | -0.19 | 1:150348590:T:G |
| Cells Cultured fibroblasts | eqtl | 2.0e-20 | +0.66 | 1:150496780:G:T |
| Artery Tibial | eqtl | 1.9e-15 | +0.79 | 1:150359534:C:T |
| Nerve Tibial | eqtl | 3.9e-15 | +0.86 | 1:150298822:G:A |
| Skin Sun Exposed Lower leg | eqtl | 2.0e-13 | -0.20 | 1:150521449:C:G |
| Adipose Subcutaneous | eqtl | 3.1e-13 | +0.24 | 1:150322682:T:G |
| Esophagus Mucosa | eqtl | 3.8e-13 | +0.92 | 1:150494737:C:CA |
| Thyroid | eqtl | 2.7e-11 | +0.68 | 1:150285405:G:A |
| Esophagus Gastroesophageal Junction | eqtl | 5.0e-11 | +0.92 | 1:150494737:C:CA |
| Brain Cerebellar Hemisphere | eqtl | 9.3e-10 | +1.29 | 1:150274698:C:T |
| Skin Not Sun Exposed Suprapubic | eqtl | 1.3e-09 | -0.20 | 1:150521449:C:G |
| Adipose Visceral Omentum | eqtl | 1.0e-08 | -0.16 | 1:150521449:C:G |
| Breast Mammary Tissue | eqtl | 1.2e-08 | -0.22 | 1:150521449:C:G |
| Artery Aorta | eqtl | 1.2e-08 | +0.81 | 1:150293419:A:C |
| Esophagus Muscularis | eqtl | 4.2e-08 | +0.73 | 1:150517894:C:T |
| Brain Cerebellar Hemisphere | sqtl | 8.6e-08 | +1.48 | 1:150416469:A:T |
| Brain Frontal Cortex BA9 | eqtl | 1.3e-06 | +0.32 | 1:150276941:G:GA |
| Heart Left Ventricle | eqtl | 1.6e-06 | -0.13 | 1:150432822:T:C |
| Brain Cerebellum | eqtl | 1.9e-06 | +1.30 | 1:150274698:C:T |
| Heart Atrial Appendage | eqtl | 3.0e-06 | +0.13 | 1:150283177:T:C |
FANTOM5 promoters
1 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5106 | 24.6934 | 1811 |
Top tissues by expression
showing 100 of 281 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 91.25 | gold quality |
| apex of heart | UBERON:0002098 | 91.18 | gold quality |
| muscle of leg | UBERON:0001383 | 91.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.50 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.04 | gold quality |
| triceps brachii | UBERON:0001509 | 89.60 | silver quality |
| right adrenal gland | UBERON:0001233 | 89.57 | gold quality |
| muscle organ | UBERON:0001630 | 89.45 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.10 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.04 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.98 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.98 | gold quality |
| cardiac ventricle | UBERON:0002082 | 88.82 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.80 | silver quality |
| right lobe of liver | UBERON:0001114 | 88.71 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.52 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.50 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.17 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.01 | gold quality |
| granulocyte | CL:0000094 | 87.95 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.91 | gold quality |
| cerebellum | UBERON:0002037 | 87.91 | gold quality |
| adrenal gland | UBERON:0002369 | 87.70 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.62 | gold quality |
| skin of leg | UBERON:0001511 | 87.41 | gold quality |
| right ovary | UBERON:0002118 | 87.29 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.27 | gold quality |
| left ovary | UBERON:0002119 | 87.15 | gold quality |
| tibial nerve | UBERON:0001323 | 87.10 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.02 | gold quality |
| right uterine tube | UBERON:0001302 | 87.00 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.98 | gold quality |
| heart | UBERON:0000948 | 86.97 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.89 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.87 | gold quality |
| cardiac atrium | UBERON:0002081 | 86.56 | gold quality |
| gluteal muscle | UBERON:0002000 | 86.41 | silver quality |
| nucleus accumbens | UBERON:0001882 | 86.40 | gold quality |
| ectocervix | UBERON:0012249 | 86.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.29 | gold quality |
| spleen | UBERON:0002106 | 86.21 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.05 | gold quality |
| body of stomach | UBERON:0001161 | 86.01 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 86.00 | gold quality |
| frontal cortex | UBERON:0001870 | 85.90 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.88 | gold quality |
| neocortex | UBERON:0001950 | 85.78 | gold quality |
| body of uterus | UBERON:0009853 | 85.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.45 | gold quality |
| pituitary gland | UBERON:0000007 | 85.42 | gold quality |
| esophagus | UBERON:0001043 | 85.38 | gold quality |
| right testis | UBERON:0004534 | 85.35 | gold quality |
| lymph node | UBERON:0000029 | 85.30 | gold quality |
| spinal cord | UBERON:0002240 | 85.21 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.18 | gold quality |
| endocervix | UBERON:0000458 | 85.07 | gold quality |
| stomach | UBERON:0000945 | 85.07 | gold quality |
| fundus of stomach | UBERON:0001160 | 85.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.94 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 84.94 | gold quality |
| amygdala | UBERON:0001876 | 84.86 | gold quality |
| liver | UBERON:0002107 | 84.81 | gold quality |
| left testis | UBERON:0004533 | 84.81 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.75 | gold quality |
| body of pancreas | UBERON:0001150 | 84.74 | gold quality |
| body of tongue | UBERON:0011876 | 84.72 | silver quality |
| putamen | UBERON:0001874 | 84.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.67 | gold quality |
| rectum | UBERON:0001052 | 84.67 | gold quality |
| hypothalamus | UBERON:0001898 | 84.64 | gold quality |
| bone marrow cell | CL:0002092 | 84.63 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.62 | gold quality |
| left uterine tube | UBERON:0001303 | 84.60 | gold quality |
| zone of skin | UBERON:0000014 | 84.55 | gold quality |
| thyroid gland | UBERON:0002046 | 84.55 | gold quality |
| lower esophagus | UBERON:0013473 | 84.44 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.43 | gold quality |
| vastus lateralis | UBERON:0001379 | 84.42 | silver quality |
| minor salivary gland | UBERON:0001830 | 84.41 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 84.41 | gold quality |
| muscle tissue | UBERON:0002385 | 84.39 | gold quality |
| quadriceps femoris | UBERON:0001377 | 84.38 | silver quality |
| brain | UBERON:0000955 | 84.37 | gold quality |
| transverse colon | UBERON:0001157 | 84.35 | gold quality |
| ovary | UBERON:0000992 | 84.26 | gold quality |
| forebrain | UBERON:0001890 | 84.23 | gold quality |
| telencephalon | UBERON:0001893 | 84.16 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.08 | gold quality |
| right coronary artery | UBERON:0001625 | 84.08 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.07 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.03 | gold quality |
| pancreas | UBERON:0001264 | 83.99 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.97 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.94 | gold quality |
| small intestine | UBERON:0002108 | 83.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.68 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 80 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Skeletal muscle | tissue | 29.9 | medium |
| Tongue | tissue | 29.0 | |
| Putamen | tissue | 24.5 | |
| Cerebral cortex | tissue | 24.4 | medium |
| Somatosensory cortex | tissue | 24.4 | |
| Liver | tissue | 23.7 | medium |
| Midbrain | tissue | 23.4 | |
| Cerebellum | tissue | 23.2 | medium |
| Superior colliculi | tissue | 22.6 | |
| Basal ganglia | tissue | 22.4 | medium |
| Septum | tissue | 22.3 | |
| Occipital cortex | tissue | 22.3 | |
| Hippocampal formation | tissue | 22.0 | |
| Hypothalamus | tissue | 21.8 | |
| Olfactory bulb | tissue | 21.7 | |
| Prefrontal cortex | tissue | 21.6 | |
| Thalamus | tissue | 21.6 | |
| Ventral forebrain | tissue | 21.6 | |
| Motor cortex | tissue | 21.1 | |
| Medulla oblongata | tissue | 21.1 | |
| Retrosplenial cortex | tissue | 21.0 | |
| Retrosplenial and cingulate cortex | tissue | 20.9 | |
| Periaqueductal gray | tissue | 20.9 | |
| Temporal cortex | tissue | 20.9 | |
| Substantia nigra | tissue | 20.7 | |
| Insular cortex | tissue | 20.7 | |
| Frontal cortex | tissue | 20.6 | |
| Amygdala | tissue | 20.5 | |
| Entorhinal cortex | tissue | 20.5 | |
| Caudate putamen | tissue | 20.5 | |
| Corpus callosum | tissue | 20.2 | |
| Pons | tissue | 20.0 | |
| Spinal cord | tissue | 19.9 | |
| Heart muscle | tissue | 19.0 | medium |
| Parathyroid gland | tissue | 16.6 | medium |
| Locus coeruleus | tissue | 16.6 | |
| Postcentral gyrus | tissue | 16.1 | |
| Choroid plexus | tissue | 15.4 | |
| Nucleus accumbens | tissue | 14.8 | |
| Tonsil | tissue | 14.4 | medium |
| Lymph node | tissue | 13.7 | medium |
| Retina | tissue | 13.5 | |
| Kidney | tissue | 13.3 | high |
| Hippocampus | tissue | 13.2 | medium |
| Epididymis | tissue | 12.3 | medium |
| Spleen | tissue | 11.8 | medium |
| Thymus | tissue | 11.8 | |
| Adrenal gland | tissue | 11.4 | medium |
| Stomach 1 | tissue | 11.3 | medium |
| Fallopian tube | tissue | 11.0 | medium |
| Skin 1 | tissue | 10.8 | medium |
| Esophagus | tissue | 10.6 | medium |
| Rectum | tissue | 10.6 | high |
| Thyroid gland | tissue | 10.5 | high |
| Ovary | tissue | 10.3 | medium |
| Appendix | tissue | 10.0 | medium |
| Colon | tissue | 9.7 | medium |
| Breast | tissue | 9.6 | medium |
| Smooth muscle | tissue | 9.3 | low |
| Bone marrow | tissue | 9.3 | medium |
Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Ventral hippocampus (22.0), Dorsal hippocampus (21.0), Subiculum (20.8), White matter (20.2), Dorsal spinal cord (19.9).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF4, QRICH1
miRNA regulators (miRDB)
Targeting TARS2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
19 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-3152-5P | 96.98 | 66.88 | 819 |
Functional genomics
gnomAD constraint: pLI 1.97e-12, LOEUF 0.76, missense Z 2.91 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000369064 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 1:150,487,451–150,491,448 | 208 / 228.5 | 0.91 | no |
| 1:150,491,449–150,492,436 | 30 / 64.5 | 0.47 | no |
| 1:150,492,437–150,507,061 | 466 / 609.5 | 0.76 | no |
| DepMap (CRISPR cell-line fitness): dependent in 73.8% of screened cell lines. |
Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): KYSE-180 (-1.712), COR-L311 (-1.586), ACC-MESO-1 (-1.515), NCI-H2004 RT (-1.512), EOL-1 (-1.51), HMC-1-8 (-1.487), EWS502 (-1.456), F-36P (-1.447), T-47D (-1.431), COR-L23 (-1.418), TE-11 (-1.395), EW8 (-1.388), SF-295 (-1.371), GCIY (-1.363), SNU-1196 (-1.36).
Literature-anchored findings (GeneRIF, showing 5)
- TARS2 mutations caused fatal mitochondrial encephalomyopathy in two siblings. (PMID:24827421)
- Identification of a TARS2 splicing variant in several human cell lines, which encodes a hmtThrRS derivative lacking a peptide covering a portion of both the editing and the aminoacylation domains. (PMID:26811336)
- Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. (PMID:33153448)
- Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation. (PMID:33340489)
- Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. (PMID:37454282)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tars2 | ENSMUSG00000028107 |
| rattus_norvegicus | Tars2 | ENSRNOG00000057194 |
| drosophila_melanogaster | ThrRS | FBGN0027081 |
| caenorhabditis_elegans | WBGENE00004189 | |
| caenorhabditis_elegans | WBGENE00006617 |
Paralogs (4): TARS1 (ENSG00000113407), MRPL39 (ENSG00000154719), PARS2 (ENSG00000162396), TARS3 (ENSG00000185418)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1919057) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| preweaning lethality, complete penetrance | 1 |
| embryonic lethality prior to organogenesis | 1 |
| embryonic lethality prior to tooth bud stage | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Bos taurus | Q3ZBV8 | 94.5% | Diamond |
| Xenopus tropicalis | Q0V9S0 | 81.5% | Diamond |
| Saccharomyces cerevisiae S288C | P04801 | 62.9% | Diamond |
| Schizosaccharomyces pombe 972h- | P87144 | 62.2% | Diamond |
| Dictyostelium discoideum | Q54J66 | 60.0% | Diamond |
| Arabidopsis thaliana | O04630 | 57.1% | Diamond |
| Enterocytozoon bieneusi H348 | B7XIA1 | 54.0% | Diamond |
| Encephalitozoon cuniculi GB-M1 | Q8SRH2 | 54.0% | Diamond |
| Aeropyrum pernix K1 | Q9YFY3 | 48.9% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| ADAMTSL4-AS2 | ncRNA | 100289061 |
| MIR4257 | ncRNA | 100422997 |
| MIR6878 | ncRNA | 102465529 |
| ECM1 | protein-coding | 1893 |
| ADAMTSL4 | protein-coding | 54507 |
| FALEC | ncRNA | 100874054 |
| RPRD2 | protein-coding | 23248 |
| PRPF3 | protein-coding | 9129 |
| MRPS21 | protein-coding | 54460 |
Protein
Protein identifiers
Threonine–tRNA ligase, mitochondrial — Q9BW92 (reviewed: Q9BW92)
Alternative names: Threonyl-tRNA synthetase, Threonyl-tRNA synthetase-like 1
All UniProt accessions (5): B4DQF3, Q9BW92, Q5T5E9, U3KQ50, U3KQG0
UniProt curated annotations — full annotation on UniProt →
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.
Subunit / interactions. Homodimer.
Subcellular location. Mitochondrion matrix.
Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the class-II aminoacyl-tRNA synthetase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BW92-1 | 1 | yes |
| Q9BW92-2 | 2 |
RefSeq proteins (3): NP_001258824, NP_001258825, NP_079426* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002314 | aa-tRNA-synt_IIb | Domain |
| IPR002320 | Thr-tRNA-ligase_IIa | Family |
| IPR004095 | TGS | Domain |
| IPR004154 | Anticodon-bd | Domain |
| IPR006195 | aa-tRNA-synth_II | Domain |
| IPR012675 | Beta-grasp_dom_sf | Homologous_superfamily |
| IPR012676 | TGS-like | Homologous_superfamily |
| IPR012947 | tRNA_SAD | Domain |
| IPR018163 | Thr/Ala-tRNA-synth_IIc_edit | Homologous_superfamily |
| IPR033728 | ThrRS_core | Domain |
| IPR036621 | Anticodon-bd_dom_sf | Homologous_superfamily |
| IPR045864 | aa-tRNA-synth_II/BPL/LPL | Homologous_superfamily |
| IPR047246 | ThrRS_anticodon | Domain |
Pfam: PF00587, PF02824, PF03129, PF07973
Catalyzed reactions (Rhea)
- tRNA(Thr) + L-threonine + ATP = L-threonyl-tRNA(Thr) + AMP + diphosphate + H(+) (RHEA:24624)
UniProt features (8 total): sequence conflict 2, transit peptide 1, chain 1, domain 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW92-F1 | 91.19 | 0.83 |
Human Protein Atlas
Protein class: Enzymes, ENZYME proteins, Ligase, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital disorders of metabolism
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): cytosol; nucleoplasm
Antibody reliability (HPA): IH approved · IF uncertain
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1)
| Type | Positions |
|---|---|
| Phosphoserine | 52 |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
4 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-379726 | Mitochondrial tRNA aminoacylation | electronic |
| R-HSA-72766 | Translation | — |
| R-HSA-379724 | tRNA Aminoacylation | — |
MSigDB gene sets: 229 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_AMINO_ACID_ACTIVATION, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, MARTIN_VIRAL_GPCR_SIGNALING_UP, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, KEGG_AMINOACYL_TRNA_BIOSYNTHESIS, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, GOBP_REGULATION_OF_TRANSLATIONAL_FIDELITY, REACTOME_MITOCHONDRIAL_TRNA_AMINOACYLATION, chr1q21, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (6): threonyl-tRNA aminoacylation (GO:0006435), mitochondrial threonyl-tRNA aminoacylation (GO:0070159), translation (GO:0006412), tRNA aminoacylation for protein translation (GO:0006418), tRNA aminoacylation (GO:0043039), aminoacyl-tRNA metabolism involved in translational fidelity (GO:0106074)
GO Molecular Function (8): aminoacyl-tRNA deacylase activity (GO:0002161), threonine-tRNA ligase activity (GO:0004829), ATP binding (GO:0005524), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), aminoacyl-tRNA ligase activity (GO:0004812), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytoplasm (GO:0005737)
Reactome top-level categories
3 top-level categories:
| Category | Pathways |
|---|---|
| tRNA Aminoacylation | 1 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
36 GO namespaces:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| tRNA metabolic process | 2 |
| catalytic activity, acting on a tRNA | 2 |
| tRNA aminoacylation for protein translation | 1 |
| threonyl-tRNA aminoacylation | 1 |
| tRNA aminoacylation for mitochondrial protein translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| translation | 1 |
| tRNA aminoacylation | 1 |
| amino acid activation | 1 |
| regulation of translational fidelity | 1 |
| carboxylic ester hydrolase activity | 1 |
| aminoacyl-tRNA metabolism involved in translational fidelity | 1 |
| deacylase activity | 1 |
| aminoacyl-tRNA ligase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| ligase activity, forming carbon-oxygen bonds | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).
4 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| mitochondrion | CC | high-throughput |
| aminoacyl-tRNA deacylase activity | MF | direct assay |
| protein homodimerization activity | MF | direct assay |
| threonine-tRNA ligase activity | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,284 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TARS2 | LARS2 | Q15031 | 965 |
| TARS2 | LARS1 | Q9P2J5 | 951 |
| TARS2 | AARS1 | P49588 | 897 |
| TARS2 | IARS2 | Q9NSE4 | 882 |
| TARS2 | IARS1 | P41252 | 833 |
| TARS2 | AARS2 | Q5JTZ9 | 829 |
| TARS2 | PARS2 | Q7L3T8 | 816 |
| TARS2 | YARS1 | P54577 | 814 |
| TARS2 | HARS1 | P12081 | 808 |
| TARS2 | YARS2 | Q9Y2Z4 | 804 |
| TARS2 | VARS2 | Q5ST30 | 803 |
| TARS2 | VARS1 | P26640 | 797 |
| TARS2 | HARS2 | P49590 | 796 |
| TARS2 | NARS2 | Q96I59 | 794 |
| TARS2 | MARS2 | Q96GW9 | 792 |
IntAct
Human interaction partners of TARS2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
12 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| ARL6IP1 | physical association | 0.560 | 3 |
| ASB6 | physical association | 0.560 | 3 |
| DDIT4L | physical association | 0.560 | 3 |
| FKBP7 | physical association | 0.560 | 3 |
| MAL2 | physical association | 0.560 | 3 |
| PLIN3 | physical association | 0.560 | 3 |
| SFT2D1 | physical association | 0.560 | 3 |
| SLC17A9 | physical association | 0.560 | 3 |
| SYPL1 | physical association | 0.560 | 3 |
| TARS3 | physical association | 0.560 | 3 |
| TNFRSF10D | physical association | 0.560 | 3 |
| EIF4A2 | physical association | 0.000 | 1 |
BioGRID (184 interactions; top human partners by supporting records): AHSA1 (Affinity Capture-Luminescence; 2 records), CDC37 (Affinity Capture-Luminescence; 2 records), CHORDC1 (Affinity Capture-Luminescence; 2 records), CLPP (Proximity Label-MS; 2 records), CS (Proximity Label-MS; 2 records), CUL3 (Affinity Capture-MS; 2 records), EGFR (Affinity Capture-MS; 2 records), FKBPL (Affinity Capture-Luminescence; 2 records), PARK2 (Affinity Capture-MS; 2 records), AARS2 (Proximity Label-MS), ACE2 (Affinity Capture-MS), ACSM5 (Affinity Capture-MS), ADAM7 (Affinity Capture-MS), AIFM1 (Proximity Label-MS), AK4 (Affinity Capture-MS)
SIGNOR signaling
2 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| QRICH1 | “up-regulates quantity by expression” | TARS2 | “transcriptional regulation” |
| ATF4 | “up-regulates quantity by expression” | TARS2 | “transcriptional regulation” |
Disease & clinical
Genetic variants
Variant evidence for TARS2: 352 ClinVar records (18 pathogenic / likely pathogenic); 17 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
352 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 16 |
| Uncertain significance | 135 |
| Likely benign | 111 |
| Benign | 50 |
Top pathogenic / likely-pathogenic (15)
Showing the 15 best-reviewed of 18 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 1174007 | NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly) | Likely pathogenic | criteria provided, single submitter | 3 |
| 143049 | NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) | Likely pathogenic | criteria provided, single submitter | 2 |
| 1174009 | NM_025150.5(TARS2):c.1678G>C (p.Asp560His) | Likely pathogenic | criteria provided, single submitter | 2 |
| 1341959 | NM_025150.5(TARS2):c.470C>G (p.Thr157Arg) | Likely pathogenic | criteria provided, single submitter | 2 |
| 1341960 | NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys) | Likely pathogenic | criteria provided, single submitter | 2 |
| 432091 | NM_025150.5(TARS2):c.1756C>T (p.Arg586Ter) | Likely pathogenic | criteria provided, single submitter | 1 |
| 2663569 | NM_025150.5(TARS2):c.191C>G (p.Ser64Ter) | Likely pathogenic | criteria provided, single submitter | 1 |
| 3892600 | NM_025150.5(TARS2):c.996T>G (p.Tyr332Ter) | Likely pathogenic | criteria provided, single submitter | 1 |
| 4072010 | NM_025150.5(TARS2):c.774G>T (p.Ser258=) | Likely pathogenic | criteria provided, single submitter | 1 |
| 4072011 | NM_025150.5(TARS2):c.1099C>T (p.His367Tyr) | Likely pathogenic | criteria provided, single submitter | 1 |
| 4845769 | NM_025150.5(TARS2):c.1037G>A (p.Arg346His) | Likely pathogenic | criteria provided, single submitter | 1 |
| 3767312 | TARS2, 1-BP DUP, NT988 | Pathogenic | no assertion criteria provided | 1 |
| 3767313 | R171K | Pathogenic | no assertion criteria provided | 1 |
| 1992417 | NM_025150.5(TARS2):c.464C>T (p.Pro155Leu) | Likely pathogenic | no assertion criteria provided | 1 |
| 1992419 | NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys) | Likely pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore TARS2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 1,519):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:150488924 | acceptor_gain | 1.0000 | |
| 1:150488942 | acceptor_gain | 1.0000 | |
| 1:150488948 | acceptor_gain | 1.0000 | |
| 1:150488955–150488956 | acceptor_gain | 1.0000 | 2 |
| 1:150488959 | acceptor_gain | 1.0000 | |
| 1:150489088–150489089 | donor_loss | 1.0000 | 5 |
| 1:150491524 | donor_gain | 1.0000 | |
| 1:150499035–150499036 | donor_loss | 1.0000 | 4 |
| 1:150499205 | acceptor_gain | 1.0000 | |
| 1:150499213–150499215 | acceptor_gain | 1.0000 | 3 |
AlphaMissense
1,038 missense substitutions predicted likely pathogenic (of 4,613 scored), across 309 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D457 | 8 | 0.945 | 0.986 |
| D560 | 8 | 0.929 | 0.964 |
| D458 | 8 | 0.912 | 0.968 |
| N408 | 8 | 0.902 | 0.989 |
| H585 | 8 | 0.884 | 0.980 |
| F567 | 8 | 0.883 | 0.973 |
| H460 | 8 | 0.878 | 0.943 |
| F454 | 8 | 0.867 | 0.965 |
| F535 | 8 | 0.859 | 0.982 |
| F433 | 8 | 0.853 | 0.966 |
| F462 | 8 | 0.846 | 0.968 |
| H367 | 8 | 0.840 | 0.958 |
| H412 | 8 | 0.831 | 0.943 |
| D432 | 8 | 0.826 | 0.929 |
| D106 | 8 | 0.759 | 0.844 |
| W362 | 7 | 0.949 | 0.983 |
| F416 | 7 | 0.938 | 0.981 |
| W508 | 7 | 0.930 | 0.974 |
| F348 | 7 | 0.925 | 0.981 |
| W610 | 7 | 0.887 | 0.973 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Disease associations
OMIM: gene MIM:612805 | disease phenotypes: MIM:615918
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| combined oxidative phosphorylation defect type 21 | Definitive | Autosomal recessive | 5 |
ClinGen Gene-Disease Validity
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
2 validity classifications:
| Disease | Classification | Inheritance |
|---|---|---|
| Leigh syndrome | Limited | AR |
| mitochondrial disease | Definitive | AR |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (11 panels, 10 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
11 panels:
| Panel | Rating |
|---|---|
| Dystonia, chorea or related movement disorder, childhood onset | green |
| Early onset or syndromic epilepsy | green |
| Hypotonic infant | green |
| Intellectual disability | green |
| Leukodystrophy, childhood onset | green |
| Likely inborn error of metabolism | green |
| Mitochondrial disorders | green |
| Paediatric disorders | green |
| Possible mitochondrial disorder, nuclear genes | green |
| Unexplained death in infancy and sudden unexplained death in childhood | green |
| Neonatal diabetes | amber |
Mondo (1): combined oxidative phosphorylation defect type 21 (MONDO:0014398)
Orphanet (1): Combined oxidative phosphorylation defect type 21 (Orphanet:420733)
HPO phenotypes
16 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000817 | Reduced eye contact |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001397 | Hepatic steatosis |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002509 | Limb hypertonia |
| HP:0003348 | Hyperalaninemia |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003811 | Neonatal death |
| HP:0008358 | Hyperprolinemia |
| HP:0008936 | Axial hypotonia |
| HP:0011813 | Increased cerebral lipofuscin |
GWAS associations
17 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010700_28 | Cortical thickness (MOSTest) | 8e-38 |
| GCST007565_182 | Morning person | 6e-30 |
| GCST007576_401 | Chronotype | 6e-30 |
| GCST90002400_128 | Plateletcrit | 3e-24 |
| GCST010696_2 | Cortical thickness (min-P) | 2e-23 |
| GCST90013405_109 | Liver enzyme levels (alanine transaminase) | 2e-20 |
| GCST003837_3 | Chronotype | 6e-17 |
| GCST010002_27 | Refractive error | 3e-15 |
| GCST90011898_2 | Alanine aminotransferase levels | 1e-12 |
| GCST010701_57 | Cortical surface area (MOSTest) | 9e-12 |
| GCST010703_294 | Brain morphology (MOSTest) | 9e-12 |
| GCST010702_101 | Subcortical volume (MOSTest) | 4e-9 |
| GCST010697_28 | Cortical surface area (min-P) | 9e-9 |
| GCST010698_54 | Subcortical volume (min-P) | 2e-8 |
| GCST010699_28 | Brain morphology (min-P) | 3e-8 |
| GCST010245_43 | LDL cholesterol levels | 4e-8 |
| GCST003838_10 | Morning vs. evening chronotype | 5e-7 |
EFO canonical traits (from GWAS)
5 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3351186 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| CHEMBL5653589 | KD | 1440 nM |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.23 | Kd | 5.919 | nM | CHEMBL5653589 |
| 8.23 | ED50 | 5.919 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149549: Binding affinity to human TARS2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0059 | uM |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| gossypol acetic acid | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | increases expression, affects cotreatment | 1 |
| aflatoxin B2 | increases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Theophylline | affects cotreatment, decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3383853 | Binding | Inhibition of threonyl tRNA synthetase (unknown origin) assessed as depletion of tRNAs at 50 uM by SToPs assay | Borrelidin B: isolation, biological activity, and implications for nitrile biosynthesis. — *J Nat Prod* |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0QJ | Ubigene HeLa TARS2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 210 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | Phase 4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | Phase 4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | Phase 3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | Phase 3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | Phase 3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | Phase 3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | Phase 2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | Phase 2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | Phase 2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | Phase 1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | Phase 1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | Phase 1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | Phase 2/3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | Phase 2/3 | COMPLETED | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | Early Phase 1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | COMPLETED | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
| NCT03381027 | Not specified | COMPLETED | BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT) |
| NCT03388294 | Not specified | COMPLETED | Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders |
| NCT03410810 | Not specified | UNKNOWN | Childhood Outcomes of Preterm Brain Abnormalities |
| NCT03492060 | Not specified | RECRUITING | Longitudinal Study of Neurogenetic Disorders |
| NCT03577756 | Not specified | COMPLETED | Neurodevelopmental Assessment of Infants With Cystic Fibrosis |
| NCT03654248 | Not specified | COMPLETED | Let’s Get Organized in Adult Psychiatric/habilitation Care |
| NCT03659279 | Not specified | COMPLETED | Let’s Get Organized Feasibility Study |
| NCT03722615 | Not specified | COMPLETED | Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa |
| NCT03770832 | Not specified | ACTIVE_NOT_RECRUITING | Wearable Sensors and Video Recordings to Monitor Motor Development |
| NCT03830879 | Not specified | RECRUITING | Shenzhen Birth Cohort Study |
| NCT03835689 | Not specified | COMPLETED | Strongest FamiliesTM Neurodevelopmental |
| NCT03882788 | Not specified | COMPLETED | The Effect of Anesthesia on Neurodevelopmental Outcome (NDO) |
| NCT03922087 | Not specified | COMPLETED | No-worry Baby Project |
| NCT03977259 | Not specified | ACTIVE_NOT_RECRUITING | Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development |
| NCT04043572 | Not specified | UNKNOWN | The Biomarkers of Neurological Disease in Utero Study |
| NCT04096430 | Not specified | RECRUITING | Evaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach) |
| NCT04108273 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children |
| NCT04201509 | Not specified | COMPLETED | Validity of Neurocognitive Assessment Methods in Childhood ADHD |
| NCT04233775 | Not specified | UNKNOWN | Altered Cerebral Growth and Development in Infants With Congenital Heart Disease |
| NCT04313283 | Not specified | COMPLETED | Translating Peer-to-Peer Support Into a Clinical Setting |
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for TARS2 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: combined oxidative phosphorylation defect type 21, Leigh syndrome, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): combined oxidative phosphorylation defect type 21, spastic hemiplegia