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LARS2 leucyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 23395, updated on 3-Apr-2024

Summary

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Official Symbol
LARS2provided by HGNC
Official Full Name
leucyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:17095
See related
Ensembl:ENSG00000011376 MIM:604544; AllianceGenome:HGNC:17095
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
HLASA; LEURS; PRLTS4; mtLeuRS
Summary
This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 6.2), brain (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (45388576..45549407)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (45404942..45565766)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45430068..45590899)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:45314637-45315836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45348077-45348577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45347576-45348076 Neighboring gene uncharacterized LOC105377061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:45353385-45353948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:45353949-45354510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:45354511-45355074 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:45355075-45355636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45363491-45363991 Neighboring gene uncharacterized LOC105377062 Neighboring gene NANOG hESC enhancer GRCh37_chr3:45387482-45388007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:45430895-45431470 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:45434289-45435488 Neighboring gene MPRA-validated peak4627 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:45534631-45534827 Neighboring gene LARS2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:45549416-45550282 Neighboring gene Sharpr-MPRA regulatory region 486 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:45585473-45585699 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:45586492-45586702 Neighboring gene Sharpr-MPRA regulatory region 4333 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:45592715-45593914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45608597-45609123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45638615-45639114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45649345-45649845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45671459-45671960 Neighboring gene LIM domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 10324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45688585-45689086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19783 Neighboring gene tRNA-Arg (anticodon ACG) 2-1 Neighboring gene LIMD1 antisense RNA 1

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. Neonatal lactic acidosis explained by LARS2 defect. De Paepe B, et al. Pediatr Res, 2023 Mar. PMID 35750896
  2. LARS2 Regulates Apoptosis via ROS-Mediated Mitochondrial Dysfunction and Endoplasmic Reticulum Stress in Ovarian Granulosa Cells. Feng S, et al. Oxid Med Cell Longev, 2022. PMID 35585880, Free PMC Article
  3. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Riley LG, et al. Hum Mutat, 2020 Aug. PMID 32442335
  4. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Kosaki R, et al. Am J Med Genet A, 2018 Feb. PMID 29205794
  5. Knockdown of IARS2 suppressed growth of gastric cancer cells by regulating the phosphorylation of cell cycle-related proteins. Fang Z, et al. Mol Cell Biochem, 2018 Jun. PMID 29071539

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].
    Title: [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].
  2. Neonatal lactic acidosis explained by LARS2 defect.
    Title: Neonatal lactic acidosis explained by LARS2 defect.
  3. Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression.
    Title: Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression.
  4. Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion.
    Title: Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion.
  5. LARS2 Regulates Apoptosis via ROS-Mediated Mitochondrial Dysfunction and Endoplasmic Reticulum Stress in Ovarian Granulosa Cells.
    Title: LARS2 Regulates Apoptosis via ROS-Mediated Mitochondrial Dysfunction and Endoplasmic Reticulum Stress in Ovarian Granulosa Cells.
  6. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
    Title: The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
  7. This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature.
    Title: Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
  8. We report novel associations between methylation at MSI2 and LARS2 and obesity-related traits. These results provide further insight into mechanisms underlying obesity-related traits, which can enable identification of new biomarkers in obesity-related chronic diseases.
    Title: An Epigenome-Wide Association Study of Obesity-Related Traits.
  9. We concluded that Perrault syndrome patients with LARS2 mutations are at risk for neurologic problems, despite previous notions otherwise.
    Title: Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
  10. IARS2 knockdown inhibits proliferation, suppresses colony formation, and causes cell cycle arrest in AGS cells.
    Title: Knockdown of IARS2 suppressed growth of gastric cancer cells by regulating the phosphorylation of cell cycle-related proteins.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
MedGen: C4310761 OMIM: 617021 GeneReviews: Not available
Compare labs
Perrault syndrome 4
MedGen: C3809105 OMIM: 615300 GeneReviews: Perrault Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

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

  • KIAA0028, MGC26121

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables aminoacyl-tRNA editing activity IEA
Inferred from Electronic Annotation
more info
  
enables leucine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables leucine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables leucine-tRNA ligase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in aminoacyl-tRNA metabolism involved in translational fidelity IEA
Inferred from Electronic Annotation
more info
  
involved_in leucyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in leucyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
leucine--tRNA ligase, mitochondrial
Names
leucine tRNA ligase 2, mitochondrial
leucine tRNA ligase 2, mitocondrial
leucine translase
probable leucine--tRNA ligase, mitochondrial
probable leucyl-tRNA synthetase, mitochondrial
NP_001355192.1
NP_056155.1
XP_011531856.1
XP_016861531.1
XP_047303785.1
XP_047303786.1
XP_054201876.1
XP_054201877.1
XP_054201878.1
XP_054201879.1

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_033907.3 RefSeqGene

    Range
    5013..165844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1353

mRNA and Protein(s)

  1. NM_001368263.1 → NP_001355192.1  leucine--tRNA ligase, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AC006515, AC092500, AC099539
    Consensus CDS
    CCDS2728.1
    UniProtKB/Swiss-Prot
    Q15031
    UniProtKB/TrEMBL
    E9PHM2
    Related
    ENSP00000498867.1, ENST00000650792.2

  2. NM_015340.4 → NP_056155.1  leucine--tRNA ligase, mitochondrial

    See identical proteins and their annotated locations for NP_056155.1

    Status: REVIEWED

    Source sequence(s)
    AC006515, AC099539, BI463427, D21851
    Consensus CDS
    CCDS2728.1
    UniProtKB/Swiss-Prot
    Q15031
    UniProtKB/TrEMBL
    E9PHM2
    Related
    ENSP00000495093.1, ENST00000645846.2
    Conserved Domains (1) summary
    PRK00390
    Location:57 → 901
    leuS; leucyl-tRNA synthetase; Validated

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    45388576..45549407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006042.2 → XP_016861531.1  leucine--tRNA ligase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    E9PHM2
    Conserved Domains (1) summary
    PRK00390
    Location:57 → 801
    leuS; leucyl-tRNA synthetase; Validated

  2. XM_047447830.1 → XP_047303786.1  leucine--tRNA ligase, mitochondrial isoform X2

  3. XM_011533554.3 → XP_011531856.1  leucine--tRNA ligase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    E9PHM2
    Conserved Domains (4) summary
    cd07958
    Location:678 → 803
    Anticodon_Ia_Leu_BEm; Anticodon-binding domain of bacterial and eukaryotic mitochondrial leucyl tRNA synthetases
    cd00812
    Location:83 → 678
    LeuRS_core; catalytic core domain of leucyl-tRNA synthetases
    pfam00133
    Location:61 → 679
    tRNA-synt_1; tRNA synthetases class I (I, L, M and V)
    pfam13603
    Location:271 → 430
    tRNA-synt_1_2; Leucyl-tRNA synthetase, Domain 2

  4. XM_047447829.1 → XP_047303785.1  leucine--tRNA ligase, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    45404942..45565766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345903.1 → XP_054201878.1  leucine--tRNA ligase, mitochondrial isoform X2

  2. XM_054345904.1 → XP_054201879.1  leucine--tRNA ligase, mitochondrial isoform X2

  3. XM_054345902.1 → XP_054201877.1  leucine--tRNA ligase, mitochondrial isoform X1

  4. XM_054345901.1 → XP_054201876.1  leucine--tRNA ligase, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15031.2 GenPept UniProtKB/Swiss-Prot:Q15031

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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