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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DARS2 Gene

protein-coding   GIFtS: 63
GCID: GC01P173793

Aspartyl-TRNA Synthetase 2, Mitochondrial

Microbiology & Infectious Diseases Congress
  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)
About This Section

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
RP3-383J4.22     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48 (See protein sequence)
Recommended Name: Aspartate--tRNA ligase, mitochondrial precursor  
Size: 645 amino acids; 73563 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PI48

  • 4/26 DME Specific Peptides for DARS2 (Q6PI48) (see all 26)
     FKQLLMV  RQPEFTQ  SHLGQEV  PPHGGIA 

    DARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DARS2 Protein Expression
    REFSEQ proteins: NP_060592.2  
    ENSEMBL proteins: 
     ENSP00000355086   ENSP00000239457  
    Reactome Protein details: Q6PI48
    Human Recombinant Protein Products for DARS2: 
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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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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

    5/8 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-helicase

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for DARS2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DARS2 
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DARS2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DARS2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.54
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for DARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


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


    DARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/45 Interacting proteins for DARS2 (Q6PI483 ENSP000003550864) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2S1P051983, ENSP000002563834I2D: score=1 STRING: ENSP00000256383
    KARSQ150463, ENSP000003254484I2D: score=1 STRING: ENSP00000325448
    PUS3Q9BZE23, ENSP000002274744I2D: score=1 STRING: ENSP00000227474
    AIMP2Q131553, ENSP000002230294I2D: score=1 STRING: ENSP00000223029
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about DARS2 / SYDM

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    5 QIAGEN miScript miRNA 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:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DARS2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DARS2
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    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 

    24/165 AceView cDNA sequences (see all 165):

    BM472019 AA287138 BM767245 BQ688158 AI378374 AI077934 BQ023736 AL701998 
    BM473527 CA453987 AI246664 BE672083 BE408981 AI754241 AI078556 BX482628 
    BI088368 BP340592 BQ437431 CA426604 AK022754 BQ022402 AA775023 BM797530 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DARS2 expression in normal human tissues (normalized intensities)      DARS2 embryonic expression: see
    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 
     5/26 selected tissues (see all 26) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium (Uncategorized)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See DARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DARS2

    SOURCE GeneReport for Unigene cluster: Hs.647707
        SABiosciences Custom PCR Arrays for DARS2
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DARS2 gene from 9/21 species (see all 21)    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 71.86(n)
    73.7(a)
      424408  XM_422251.3  XP_422251.3 
    lizard
    (Anolis carolinensis)
    Reptilia DARS26
    Uncharacterized protein
    67(a)
    1 ↔ 1
    4(71356025-71376290)
    zebrafish
    (Danio rerio)
    Actinopterygii BI672900.12   -- 75.01(n)    BI672900.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG317391 CG31739 51.64(n)
    47.96(a)
      326155  NM_165196.1  NP_724018.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dars-21 Protein DARS-2 52.33(n)
    45.88(a)
      3565124  NM_073618.5  NP_506019.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSD1(YPL104W)4
    MSD11
    Mitochondrial aspartyl-tRNA synthetase, required for more4
    Msd1p1
    49.04(n)1
    39.3(a)1
      16(355700-357676)4
    8560001, 4  NP_015221.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G337601 aspartyl-tRNA synthetase 51.45(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/729 SNPs in DARS2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 14 diseases for DARS2:    About MalaCards
    leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation    alpers syndrome    autosomal recessive disease    axonal neuropathy
    mitochondrial encephalomyopathy    encephalomyopathy    cerebellar ataxia    spasticity
    ataxia    neuropathy    pneumonia    multiple sclerosis
    tuberculosis    diabetes mellitus

    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)
    About This Section

    PubMed articles for DARS2 gene, integrated from 9 sources (see all 34):
    (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. (2005)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    7. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. (PubMed id 19592391)1, 9 Isohanni P....Suomalainen A. (2010)
    8. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. (PubMed id 23216004)1 van Berge L....Scheper G.C. (2013)
    9. Thermodynamic properties distinguish human mitochondri al aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture. (PubMed id 23275545)1 Neuenfeldt A....Florentz C. (2013)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 55157 HGNC: 25538 AceView: FLJ10514 Ensembl:ENSG00000117593 euGenes: HUgn55157
    ECgene: DARS2 Kegg: 55157 H-InvDB: DARS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DARS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DARS2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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