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TARS2 threonyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 80222, updated on 5-Mar-2024

Summary

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Official Symbol
TARS2provided by HGNC
Official Full Name
threonyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:30740
See related
Ensembl:ENSG00000143374 MIM:612805; AllianceGenome:HGNC:30740
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
thrRS; TARSL1; COXPD21
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]
Expression
Ubiquitous expression in kidney (RPKM 7.6), heart (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150487419..150507602)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149612277..149632442)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150459895..150480078)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1687 Neighboring gene regulation of nuclear pre-mRNA domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:150383836-150384059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150444960-150445472 Neighboring gene uncharacterized LOC124904416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150459720-150460226 Neighboring gene microRNA 6878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150482970-150483840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1300 Neighboring gene extracellular matrix protein 1 Neighboring gene focally amplified long non-coding RNA in epithelial cancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150505206-150506196 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:150507812-150509011

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. Li X, et al. BMC Med Genet, 2020 Nov 5. PMID 33153448, Free PMC Article
  2. Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation. Kim SH, et al. Mol Cell, 2021 Jan 21. PMID 33340489
  3. A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects. Wang Y, et al. J Biol Chem, 2016 Mar 18. PMID 26811336, Free PMC Article
  4. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Diodato D, et al. Hum Mutat, 2014 Aug. PMID 24827421, Free PMC Article
  5. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. Reiling E, et al. Eur J Hum Genet, 2009 Aug. PMID 19209188, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
    Title: Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
  2. Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation.
    Title: Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation.
  3. Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
    Title: Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
  4. 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.
    Title: A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects.
  5. TARS2 mutations caused fatal mitochondrial encephalomyopathy in two siblings.
    Title: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  7. Meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation defect type 21
MedGen: C4706316 OMIM: 615918 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12528

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables aminoacyl-tRNA editing activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables threonine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables threonine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in aminoacyl-tRNA metabolism involved in translational fidelity IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial threonyl-tRNA aminoacylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in threonyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
threonine--tRNA ligase, mitochondrial
Names
threonyl-tRNA synthetase 2, mitochondrial (putative)
threonyl-tRNA synthetase-like 1
NP_001258824.1
NP_001258825.1
NP_079426.2
XP_006711618.1
XP_016857883.1
XP_016857884.1
XP_047286857.1
XP_054194838.1
XP_054194839.1
XP_054194840.1
XP_054194841.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034226.1 RefSeqGene

    Range
    5056..25239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271895.2 → NP_001258824.1  threonine--tRNA ligase, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001258824.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons in the coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    AK225368, AK315507, CA426625, DB451526
    Consensus CDS
    CCDS60251.1
    UniProtKB/TrEMBL
    U3KQG0
    Related
    ENSP00000475847.1, ENST00000606933.5
    Conserved Domains (1) summary
    cl28417
    Location:17 → 628
    ThrS; Threonyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

  2. NM_001271896.2 → NP_001258825.1  threonine--tRNA ligase, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001258825.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks four exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter compared to isoform a.
    Source sequence(s)
    AK022590, AK225368, CA426625
    Consensus CDS
    CCDS60252.1
    UniProtKB/Swiss-Prot
    Q9BW92
    Related
    ENSP00000358050.2, ENST00000369054.6
    Conserved Domains (1) summary
    cl28417
    Location:17 → 580
    ThrS; Threonyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

  3. NM_025150.5 → NP_079426.2  threonine--tRNA ligase, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_079426.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC007824, BC009997, BM974316, CA426625, DB451526
    Consensus CDS
    CCDS952.1
    UniProtKB/Swiss-Prot
    Q53GW7, Q96I50, Q9BW92, Q9H9V2
    Related
    ENSP00000358060.3, ENST00000369064.8
    Conserved Domains (5) summary
    cd01667
    Location:61 → 122
    TGS_ThrRS_N; TGS _ThrRS_N: ThrRS (threonyl-tRNA Synthetase) is a class II tRNA synthetase that couples threonine to its cognate tRNA. In addition to its catalytic and anticodon-binding domains, ThrRS has an N-terminal TGS domain, named after the ThrRS, GTPase, and ...
    PLN02908
    Location:17 → 710
    PLN02908; threonyl-tRNA synthetase
    smart00863
    Location:229 → 252
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain
    cd00771
    Location:300 → 613
    ThrRS_core; Threonyl-tRNA synthetase (ThrRS) class II core catalytic domain. ThrRS is a homodimer. It is responsible for the attachment of threonine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
    cd00860
    Location:613 → 704
    ThrRS_anticodon; ThrRS Threonyl-anticodon binding domain. ThrRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...

RNA

  1. NR_073513.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites in internal exons and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY450558, BC000541, CN258895, DB451526, DB551795
    Related
    ENST00000369051.7

  2. NR_073514.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK022590, AK298773, BP308698, CA426625

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150487419..150507602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711555.3 → XP_006711618.1  threonine--tRNA ligase, mitochondrial isoform X1

    Conserved Domains (1) summary
    PLN02908
    Location:17 → 676
    PLN02908; threonyl-tRNA synthetase

  2. XM_047430901.1 → XP_047286857.1  threonine--tRNA ligase, mitochondrial isoform X2

  3. XM_017002394.3 → XP_016857883.1  threonine--tRNA ligase, mitochondrial isoform X3

  4. XM_017002395.3 → XP_016857884.1  threonine--tRNA ligase, mitochondrial isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149612277..149632442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338863.1 → XP_054194838.1  threonine--tRNA ligase, mitochondrial isoform X1

  2. XM_054338864.1 → XP_054194839.1  threonine--tRNA ligase, mitochondrial isoform X2

  3. XM_054338865.1 → XP_054194840.1  threonine--tRNA ligase, mitochondrial isoform X3

  4. XM_054338866.1 → XP_054194841.1  threonine--tRNA ligase, mitochondrial isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BW92.1 GenPept UniProtKB/Swiss-Prot:Q9BW92

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