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DARS2 aspartyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 55157, updated on 10-Dec-2024

Summary

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Official Symbol
DARS2provided by HGNC
Official Full Name
aspartyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:25538
See related
Ensembl:ENSG00000117593 MIM:610956; AllianceGenome:HGNC:25538
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
LBSL; ASPRS; mtAspRS; MT-ASPRS
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

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See DARS2 in Genome Data Viewer
Location:
1q25.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (173824673..173858546)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (173182837..173216665)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173793811..173827684)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 20 Neighboring gene ribosomal protein S27 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:173728073-173728573 Neighboring gene RN7SK pseudogene 160 Neighboring gene MPRA-validated peak463 silencer Neighboring gene centromere protein L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2116 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:173793515-173794033 and GRCh37_chr1:173794034-173794551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:173795193-173795706 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:173821280-173822182 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173830052-173830768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173830769-173831485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1556 Neighboring gene GAS5 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 81 Neighboring gene growth arrest specific 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients. Martikainen MH, et al. J Neurol, 2013 Aug. PMID 23652419
  2. A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Miyake N, et al. Clin Genet, 2011 Sep. PMID 21815884
  3. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. van Berge L, et al. Biochem J, 2012 Feb 1. PMID 22023289
  4. High expression of DARS2 indicates poor prognosis in lung adenocarcinoma. Jiang Y, et al. J Clin Lab Anal, 2022 Oct. PMID 36085578, Free PMC Article
  5. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Tzoulis C, et al. J Neurol, 2012 Feb. PMID 21792730

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
    Title: Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
  2. Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.
    Title: Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.
  3. DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.
    Title: DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.
  4. DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.
    Title: DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.
  5. Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
    Title: Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
  6. High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.
    Title: High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.
  7. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
    Title: Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
  8. DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
    Title: DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
  9. Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2
    Title: Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
  10. Results show that DARS2 is strongly upregulated in hepatocellular carcinoma (HCC) and is associated with HCC progression. DARS2 promotes HCC tumorigenesis by accelerating cell cycle progression and attenuating cell apoptosis.
    Title: Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

  • FLJ10514

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding TAS
Traceable Author Statement
more info
 PubMed 
enables aspartate-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aspartate-tRNA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aspartate-tRNA(Asn) ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in aspartyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial asparaginyl-tRNA aminoacylation IC
Inferred by Curator
more info
 PubMed 
involved_in mitochondrial asparaginyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA aminoacylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
aspartate--tRNA ligase, mitochondrial
Names
aspartate tRNA ligase 2, mitochondrial
aspartyl-tRNA synthetase, mitochondrial
NP_001352141.1
NP_001352142.1
NP_060592.2

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_016138.1 RefSeqGene

    Range
    5015..38888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1270

mRNA and Protein(s)

  1. NM_001365212.1 → NP_001352141.1  aspartate--tRNA ligase, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL109921
    Consensus CDS
    CCDS91109.1
    UniProtKB/TrEMBL
    A0A3B3ISK7, A0A3B3IT01
    Related
    ENSP00000497472.1, ENST00000648807.1
    Conserved Domains (1) summary
    PRK00476
    Location:50 → 585
    aspS; aspartyl-tRNA synthetase; Validated

  2. NM_001365213.2 → NP_001352142.1  aspartate--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL109921
    Consensus CDS
    CCDS91108.1
    UniProtKB/TrEMBL
    A0A3B3IS54, A0A3B3ITS3
    Related
    ENSP00000497874.1, ENST00000648458.1
    Conserved Domains (1) summary
    cl27743
    Location:50 → 458
    tRNA-synt_2; tRNA synthetases class II (D, K and N)

  3. NM_018122.5 → NP_060592.2  aspartate--tRNA ligase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_060592.2

    Status: REVIEWED

    Source sequence(s)
    AK022754, AL109921, AL519850, BC045173
    Consensus CDS
    CCDS1311.1
    UniProtKB/Swiss-Prot
    Q6PI48
    UniProtKB/TrEMBL
    A8K4A8
    Related
    ENSP00000497569.1, ENST00000649689.2
    Conserved Domains (1) summary
    PRK00476
    Location:50 → 636
    aspS; aspartyl-tRNA synthetase; Validated

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    173824673..173858546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    173182837..173216665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PI48.1 GenPept UniProtKB/Swiss-Prot:Q6PI48

Gene LinkOut

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