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DARS2 Gene

protein-coding   GIFtS: 63
GCID: GC01P173793

Aspartyl-TRNA Synthetase 2, Mitochondrial

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aspartyl-TRNA Synthetase 2, Mitochondrial1 2     Aspartate TRNA Ligase 2, Mitochondrial2
EC 6.1.1.123 8     Aspartate--TRNA Ligase, Mitochondrial2
Aspartate TRNA Ligase 21     Aspartyl-TRNA Synthetase, Mitochondrial2
mitochondrial1     AspRS3
ASPRS2     Aspartyl-TRNA Synthetase3
LBSL2     ASPRS. LBSL5
MT-ASPRS2     EC 6.1.18

External Ids:    HGNC: 255381   Entrez Gene: 551572   Ensembl: ENSG000001175937   OMIM: 6109565   UniProtKB: Q6PI483   

Export aliases for DARS2 gene to outside databases

Previous GC identifers: GC01P170526 GC01P172060 GC01P145019


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DARS2 Gene:
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)

GeneCards Summary for DARS2 Gene:
DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with DARS2 include leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, and alpers syndrome. GO annotations related to this gene include protein homodimerization activity and aspartate-tRNA ligase activity.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DARS2 gene promoter:
         Max1   AML1a   Brachyury   MyoD   AP-4   RelA   NF-kappaB   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDARS2 promoter sequence
   Search Chromatin IP Primers for DARS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DARS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.1   Ensembl cytogenetic band:  1q25.1   HGNC cytogenetic band: 1q25.1

DARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DARS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P173793:  view genomic region     (about GC identifiers)

Start:
173,793,641 bp from pter      End:
173,827,684 bp from pter
Size:
34,044 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48 (See protein sequence)
Recommended Name: Aspartate--tRNA ligase, mitochondrial precursor  
Size: 645 amino acids; 73563 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for DARS2:
4AH6 (3D)    

Explore the universe of human proteins at neXtProt for DARS2: NX_Q6PI48

Explore proteomics data for DARS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys224, Lys235
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DARS2 (Q6PI48) (see all 26)
     FKQLLMV  RQPEFTQ  SHLGQEV  PPHGGIA 


    See DARS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060592.2  
    ENSEMBL proteins: 
     ENSP00000355086   ENSP00000239457  
    Reactome Protein details: Q6PI48

    DARS2 Human Recombinant Protein Products:

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    Novus Biologicals DARS2 Protein
    Novus Biologicals DARS2 Lysates
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DARS2

    DARS2 Antibody Products:

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    DARS2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DARS2
    Cloud-Clone Corp. CLIAs for DARS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS2: Aminoacyl tRNA synthetases / Class II

    Selected InterPro protein domains (see all 8):
     IPR006195 aa-tRNA-synth_II
     IPR004364 aa-tRNA-synt_II
     IPR004524 Asp-tRNA-ligase_IIb_bac/mt
     IPR012340 NA-bd_OB-fold
     IPR004365 NA-bd_OB_tRNA

    Graphical View of Domain Structure for InterPro Entry Q6PI48

    ProtoNet protein and cluster: Q6PI48

    4 Blocks protein domains:
    IPB002312 Aspartyl-tRNA synthetase signature
    IPB004115 GAD domain
    IPB004364 tRNA synthetase
    IPB004365 OB-fold nucleic acid binding domain


    UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    DARS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYDM_HUMAN, Q6PI48
    Catalytic activity: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp)

         Enzyme Numbers (IUBMB): EC 6.1.1.121 2 EC 6.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding TAS15779907
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004815aspartate-tRNA ligase activity TAS--
         
    DARS2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dars2):
     behavior/neurological  homeostasis/metabolism  mortality/aging 

    DARS2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DARS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DARS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DARS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DARS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DARS2:
    hsa-mir-24-3p (MIRT050370), hsa-mir-186-5p (MIRT045053), hsa-mir-222-3p (MIRT046656), hsa-mir-30a-5p (MIRT028622)

    Block miRNA regulation of human, mouse, rat DARS2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate DARS2:
    hsa-miR-607 hsa-miR-2110 hsa-miR-4276 hsa-miR-758 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidDARS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DARS2
    Predesigned siRNA for gene silencing in human, mouse, rat DARS2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DARS2

    Clone
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    OriGene clones in human, mouse for DARS2 (see all 8)
    OriGene ORF clones in mouse, rat for DARS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DARS2 (NM_018122)
    Sino Biological Human cDNA Clone for DARS2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DARS2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DARS2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DARS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYDM_HUMAN, Q6PI48: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion TAS15779907
    GO:0005759mitochondrial matrix TAS--

    DARS2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DARS2 About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.52
    2Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for DARS2
        Mitochondrial tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for DARS2):
        Aminoacyl-tRNA biosynthesis


    DARS2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DARS2
    Interactions:

        Search GeneGlobe Interaction Network for DARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for DARS2 (Q6PI483 ENSP000003550864) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRY2Q49AN03, ENSP000004067514I2D: score=4 STRING: ENSP00000406751
    EEF1A1P681043, ENSP000003300544I2D: score=1 STRING: ENSP00000330054
    EIF2S1P051983, ENSP000002563834I2D: score=1 STRING: ENSP00000256383
    KARSQ150463, ENSP000003254484I2D: score=1 STRING: ENSP00000325448
    AIMP2Q131553, ENSP000002230294I2D: score=1 STRING: ENSP00000223029
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0010467gene expression TAS--
    GO:0043039tRNA aminoacylation IDA15779907
    GO:0070145mitochondrial asparaginyl-tRNA aminoacylation IC15779907

    DARS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DARS2 (SYDM)

    5 HMDB Compounds for DARS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for DARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--16597625 10562565 17139284 17016423 8313877



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DARS2 gene: 
    NM_018122.4  

    Unigene Cluster for DARS2:

    Aspartyl-tRNA synthetase 2, mitochondrial
    Hs.647707  [show with all ESTs]
    Unigene Representative Sequence: NM_018122
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361951(uc001gjh.2) ENST00000471476 ENST00000460076 ENST00000239457

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DARS2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate DARS2:
    hsa-miR-607 hsa-miR-2110 hsa-miR-4276 hsa-miR-758 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidDARS2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DARS2
    Predesigned siRNA for gene silencing in human, mouse, rat DARS2
    Clone
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    OriGene clones in human, mouse for DARS2 (see all 8)
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    GenScript: all cDNA clones in your preferred vector: DARS2 (NM_018122)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DARS2
    Primer
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    OriGene qPCR primer pairs and template standards for DARS2
    OriGene qSTAR qPCR primer pairs in human, mouse for DARS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DARS2
      QuantiTect SYBR Green Assays in human, mouse, rat DARS2
      QuantiFast Probe-based Assays in human, mouse, rat DARS2

    Additional mRNA sequence: 

    AK001376.1 AK022754.1 AK290873.1 AL833633.1 BC045173.2 

    12 DOTS entries:

    DT.95272513  DT.313079  DT.95366867  DT.102842494  DT.121423412  DT.121423403  DT.95272512  DT.121423394 
    DT.121423458  DT.121423482  DT.95272510  DT.99970861 

    Selected AceView cDNA sequences (see all 165):

    CA426604 BQ023736 BQ427584 AL701998 AA514968 BP340592 AI246664 AI378374 
    BE408981 AL519850 AI078556 BP369043 AA775023 BX482628 BE672083 BM472019 
    BM473527 AA642983 BQ437431 AL833633 AI754241 AI077934 BQ688158 BE263867 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DARS2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b
    SP1:                                                                                                                                          
    SP2:                                                  -     -                                                                                 
    SP3:                                                                                      -                                                   
    SP4:                                                                                            -                                             
    SP5:                                                                                                        -     -     -                     


    ECgene alternative splicing isoforms for DARS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTCATAC
    DARS2 Expression
    About this image


    DARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DARS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DARS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647707
        Custom PCR Arrays for DARS2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DARS2
    OriGene qSTAR qPCR primer pairs in human, mouse for DARS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DARS2
    QuantiTect SYBR Green Assays in human, mouse, rat DARS2
    QuantiFast Probe-based Assays in human, mouse, rat DARS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DARS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DARS2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dars21 , 5 aspartyl-tRNA synthetase 2 (mitochondrial)1, 5 84.6(n)1
    85.69(a)1
      1 (69.75 cM)5
    2265391  NM_172644.31  NP_766232.11 
     1610406015 
    chicken
    (Gallus gallus)
    Aves DARS21 aspartyl-tRNA synthetase 2, mitochondrial 71.85(n)
    73.58(a)
      424408  XM_422251.4  XP_422251.3 
    lizard
    (Anolis carolinensis)
    Reptilia DARS26
    aspartyl-tRNA synthetase 2, mitochondrial
    67(a)
    1 ↔ 1
    4(71356025-71376290)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dars21 aspartyl-tRNA synthetase 2, mitochondrial 66.78(n)
    67.56(a)
      100145033  XM_002931466.2  XP_002931512.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BI672900.12   -- 75.01(n)    BI672900.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG317391 CG31739 51.95(n)
    48.39(a)
      326155  NM_001273590.1  NP_001260519.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dars-21 dars-2 52.39(n)
    45.88(a)
      3565124  NM_073618.6  NP_506019.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSD1(YPL104W)4
    MSD11
    Mitochondrial aspartyl-tRNA synthetase, required for more4
    MSD11
    49.25(n)1
    39.55(a)1
      16(355700-357676)4
    8560001, 4  NP_015221.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G337601 AT4G33760 51.39(n)
    43.55(a)
      829518  NM_119534.4  NP_195102.2 
    rice
    (Oryza sativa)
    Liliopsida Os.248692 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.08(n)    NM_184410.1 


    ENSEMBL Gene Tree for DARS2 (if available)
    TreeFam Gene Tree for DARS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DARS2 (see all 729)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0370174
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370172 R H mis40--------
    VAR_0370224
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370222 L F mis40--------
    VAR_0370194
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370192 Q K mis40--------
    VAR_0370184
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370182 Q K mis40--------
    VAR_0370234
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370232 L Q mis40--------
    VAR_0370254
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370252 Y C mis40--------
    VAR_0370204
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370202 R Q mis40--------
    VAR_0370214
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370212 D V mis40--------
    VAR_0370244
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370242 L V mis40--------
    VAR_0370164
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)4--see VAR_0370162 C F mis40--------

    HapMap Linkage Disequilibrium report for DARS2 (173793641 - 173827684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DARS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831926CNV Gain+Loss17160897
    dgv149e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): DARS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for DARS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610956   
    OMIM disorders: 611105  
    UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]:
    Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities
    observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive
    cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DARS2 (see all 22):    
    About MalaCards
    leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation    alpers syndrome    autosomal recessive disease    episodic ataxia
    axonal neuropathy    mitochondrial encephalomyopathy    encephalomyopathy    cerebellar ataxia
    spasticity    ataxia    neuropathy    pneumonia
    multiple sclerosis    diabetes mellitus    tonsillitis    tuberculosis
    multiple myeloma    malaria    myeloma    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for DARS2:
    Alpers syndrome     Cerebellar ataxia     Mitochondrial encephalomyopathy

    DARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DARS2
    Human Genome Epidemiology (HuGE) Navigator: DARS2 (2 documents)

    Export disorders for DARS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DARS2 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with DARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PubMed id 15779907)1, 2, 3 Bonnefond L....Sissler M. (Biochemistry 2005)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PubMed id 19209188)1, 4 Reiling E....Dekker J.M. (Eur. J. Hum. Genet. 2009)
    4. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. (PubMed id 17384640)1, 2 Scheper G.C.... van der Knaap M.S. (Nat. Genet. 2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. (PubMed id 19592391)1, 9 Isohanni P....Suomalainen A. (J. Med. Genet. 2010)
    8. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. (PubMed id 23216004)1 van Berge L....Scheper G.C. (Biochem. J. 2013)
    9. 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. (PubMed id 23652419)1 Martikainen M.H....Majamaa K. (J. Neurol. 2013)
    10. Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture. (PubMed id 23275545)1 Neuenfeldt A....Florentz C. (Nucleic Acids Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55157 HGNC: 25538 AceView: FLJ10514 Ensembl:ENSG00000117593 euGenes: HUgn55157
    ECgene: DARS2 Kegg: 55157 H-InvDB: DARS2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DARS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DARS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DARS2 gene:
    Search GeneIP for patents involving DARS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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