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

Summary

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: mouse all
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Genomic context

Location:: 1q21.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (150487419..150507602)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149612277..149632442)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (150459895..150480078)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
TARS2 mutations caused fatal mitochondrial encephalomyopathy in two siblings.
Title: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor 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

EC 6.1.1.3

NP_001258825.1

EC 6.1.1.3

NP_079426.2

EC 6.1.1.3

XP_006711618.1

EC 6.1.1.3

XP_016857883.1

EC 6.1.1.3

XP_016857884.1

EC 6.1.1.3

XP_047286857.1

EC 6.1.1.3

XP_054194838.1

EC 6.1.1.3

XP_054194839.1

EC 6.1.1.3

XP_054194840.1

EC 6.1.1.3

XP_054194841.1

EC 6.1.1.3

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

NG_034226.1 RefSeqGene

Range

5056..25239

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

150487419..150507602

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

PLN02908
Location:17 → 676

PLN02908; threonyl-tRNA synthetase
XM_047430901.1 → XP_047286857.1 threonine--tRNA ligase, mitochondrial isoform X2
XM_017002394.3 → XP_016857883.1 threonine--tRNA ligase, mitochondrial isoform X3
XM_017002395.3 → XP_016857884.1 threonine--tRNA ligase, mitochondrial isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

149612277..149632442

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338863.1 → XP_054194838.1 threonine--tRNA ligase, mitochondrial isoform X1
XM_054338864.1 → XP_054194839.1 threonine--tRNA ligase, mitochondrial isoform X2
XM_054338865.1 → XP_054194840.1 threonine--tRNA ligase, mitochondrial isoform X3
XM_054338866.1 → XP_054194841.1 threonine--tRNA ligase, mitochondrial isoform X4