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

    Gene ID: 55157, updated on 3-Nov-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
    mouse all
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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: HPA RNA-seq normal tissues 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. 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. 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
    3. A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Miyake N, et al. Clin Genet, 2011 Sep. PMID 21815884
    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. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. Synofzik M, et al. J Med Genet, 2011 Oct. PMID 21749991

    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)

    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

    • 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

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

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