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DARS2 Gene

protein-coding   GIFtS: 57

GC01P172060
aspartyl-tRNA synthetase 2, mitochondrial
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ASPRS 2
AspRS 3
EC 6.1.1.12 3
FLJ10514 1, 2
LBSL 2
MT-ASPRS 2
OTTHUMP00000032692 2
RP3-383J4.2 2
Descriptions
ASPRS. LBSL 5
Aspartate--tRNA ligase 3
aspartate tRNA ligase 2, mitochondrial 2
aspartyl-tRNA synthetase 2, mitochondrial 2
External Ids
HGNC: 255381
Entrez Gene: 551572
UniProtKB: Q6PI483
Ensembl: ENSG000001175937
Search outside databases for aliases for DARS2 gene

Previous GC identifer: GC01P170526

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  --
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the DARS2 gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P172060:     (about GC identifiers)

Start:
172,060,581 bp from pter
End:
172,094,305 bp from pter
Size:
33,725 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48 (See protein sequence)
Recommended Name: Aspartyl-tRNA synthetase, mitochondrial precursor  
Size: 645 amino acids; 73563 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix

REFSEQ proteins: NP_060592.2  

ENSEMBL proteins: 
ENSP00000355086 ENSP00000239457 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (DARS2)
Human Recombinant Proteins from Abnova (DARS2)
              OriGene Purified Recombinant Human Protein: DARS2 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0005739 mitochondrion IEA--
GO:0005759 mitochondrial matrix IEA--
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Antibodies for DARS2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for DARS2
Browse R&D Systems for Antibodies
Antibodies from Abcam (DARS2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (DARS2)
Novus Biologicals Antibodies for DARS2

Assays for DARS2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5/9 InterPro domains/families (see all 9 ):
 IPR012340 NA-bd_OB-fold
 IPR004365 NA_bd_OB_tRNA-helicase
 IPR006195 aa-tRNA-synth_II_cons-reg
 IPR002312 Asp-tRNA-synth_IIb
 IPR004524 Asp-tRNA-synth_IIb_bac/mt


   GeneDecks  DARS2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q6PI48

ProtoNet protein and cluster: Q6PI48

4 Blocks protein families:
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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (DARS2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (DARS2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018122

              Applied Biosystems Silencer® siRNAs for DARS2

              Sigma-Aldrich siRNA for DARS2  
                     Sigma-Aldrich shRNA for DARS2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for DARS2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018122
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018122
                                 untagged cDNA clones in CMV expression vector (see all 3): AL833633 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_018122

UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48
Catalytic activity: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp)
Enzyme Number (IUBMB): EC 6.1.1.12 

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0003676 nucleic acid binding IEA--
GO:0004815 aspartate-tRNA ligase activity IEA--
GO:0005524 ATP binding IEA--
GO:0016874 ligase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  DARS2  (Your Favorite Gene powered by Ingenuity) 
 Aminoacyl-tRNA Biosynthesis
 Alanine and Aspartate Metabolism

   GeneDecks  DARS2 for the pathways selected above  
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2 Kegg Pathways  (Kegg details for DARS2):
 hsa00252 Alanine and aspartate metabolism
 hsa00970 Aminoacyl-tRNA biosynthesis

   GeneDecks  DARS2 for the pathways selected above  
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5/17 Interacting proteins for DARS2 (ENSP000003550863) via UniProtKB, MINT, and/or STRING (see all 17 )
InteractantInteraction Details
GeneCardExternal ID(s)
ADSSENSP000003554933STRING (score=.906)
ADSSL1ENSP000003330193STRING (score=.9)
ASNSENSP000001755063STRING (score=.9)
ACY3ENSP000002550823STRING (score=.899)
ASS1ENSP000003614713STRING (score=.899)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006422 aspartyl-tRNA aminoacylation IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for DARS2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (DARS2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (DARS2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018122

              Sigma-Aldrich siRNA for DARS2  
                     Sigma-Aldrich shRNA for DARS2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_018122  

REFSEQ mRNAs for DARS2 gene: 

NM_018122.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_018122  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018122
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018122
                                 untagged cDNA clones in CMV expression vector (see all 3): AL833633 

Additional cDNA 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 ):

BQ059324 CA337391 BE263867 AL701998 AI022771 BQ427584 NM_018122 BQ688158 
AU125913 AL833633 BU194090 AI022773 AI637676 AU126045 AA642983 BG254491 
BM473527 CA453987 AA775023 BM770614 AU125713 BI088368 BQ437431 AI378374 

highest scoring ESTs for DARS2:

AI126802 AA284708 AA287138 AA514968 AA642983 AA693657 AA775023 AA805701 AA829971 AA852950 

Unigene Cluster for DARS2:

Aspartyl-tRNA synthetase 2, mitochondrial
Hs.647707  [show with all ESTs]
Unigene Representative Sequence: NM_018122


GeneLoc Exon Structure

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

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:                                                                                                        -     -     -                     

About this scheme

ECgene alternative splicing isoforms for DARS2

2 Ensembl transcripts including schematic representations:
ENST00000361951  ENST00000239457  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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DARS2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for DARS2

1 / 2 / 3

4 probe-sets matching DARS2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

64470_at2, 3 U95-C 1 1.00 1.00 0.92 1.11 AI126802 1.00 1.00 1.00 1

86801_at2, 3 U95-E 1 0.88 1.00 0.92 0.90 AA535724 0.60 1.00 0.82 1

218365_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI765051 0.80 1.00 0.91 1

218365_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTTCTCATAC

SOURCE GeneReport for Unigene cluster: Hs.647707
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for DARS2 gene from 5/18 species (see all 18 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
DARS21   -- aspartyl-tRNA synthetase 2, mitochondrial 89.36(n)
87.01(a)
490337  XM_547457.2  XP_547457.2 
chimpanzee
(Pan troglodytes)
DARS21   -- aspartyl-tRNA synthetase 2, mitochondrial 99.43(n)
99.22(a)
469591  XM_524974.2  XP_524974.2 
cow
(Bos taurus)
DARS21   -- aspartyl-tRNA synthetase 2, mitochondrial 89.03(n)
86.99(a)
538772  XM_582590.3  XP_582590.2 
rat
(Rattus norvegicus)
Dars21   -- aspartyl-tRNA synthetase 2 (mitochondrial) 84.48(n)
85.83(a)
304919  NM_001034143.1  NP_001029315.1 
mouse
(Mus musculus)
Dars21, 5 15
aspartyl-tRNA synthetase 2 (mitochondrial)1, 5 84.6(n)1
85.69(a)1
2265391  NM_172644.31  NP_766232.11 
 AK0309525  AK0336345  (see all 26)
About this table        Species with no ortholog for DARS2

ENSEMBL Gene Tree for DARS2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for DARS2 gene
KARS2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/155 NCBI SNPs in DARS2 are shown (see all 155 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 45)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs94257581,2
C,F172093676(+) TTTGGT/CTAGGA 1 -- ut313Minor allele frequency- C:0.07NA 132
rs355156381,2
C,F172069231(+) CATGAA/GAATGC 1 K/R mis15Minor allele frequency- G:0.04NA EU EA WA 496
--
rs120847871,2
A172093779(+) ACCCAA/GATAGT 1 -- ut310--------
--
rs15355261,2
H172094764(+) TTTAAG/ATTCTA 1 -- ng313Minor allele frequency- A:0.00EU EA 276
rs20688711,2
C,F,H,O172062792(+) AGGGTA/GTAACA 1 -- int112Minor allele frequency- G:0.13EU EA WA 1256
rs94257561,2
A,C,F,H172083209(+) TCTCTC/TTCTTC 1 -- int1 trp34Minor allele frequency- T:0.40EU EA WA 418
rs22953661,2
A,C,F,H172092315(+) GTCAGT/GTTTAG 1 -- int113Minor allele frequency- G:0.32EA NA EU WA 1960
rs66913271,2
A,C,F,H172080071(+) TCATGT/GTGAAC 1 -- int18Minor allele frequency- G:0.12EU EA WA 838
--
rs64252601,2
A,C,F,H172062576(+) GAATGC/TATGGT 1 -- int14Minor allele frequency- T:0.03EU EA WA 416
rs75181301,2
A,C,F,H172091990(+) TCACAA/TGATCA 1 -- int111Minor allele frequency- T:0.11EU EA WA NA 980
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HapMap Linkage Disequilibrium images for DARS2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 610956   disorders: 611105  

UniProtKB/Swiss-Prot: SYDM_HUMAN, Q6PI48

  • Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord
    involvement and lactate elevation (LBSL) [MIM:611105]. LBSL is an 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
  • Human Gene Mutation Database: DARS2
    Human Genome Epidemiology Navigator: DARS2 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    9 PubMed articles for DARS2 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 55157 HGNC: 25538 AceView: FLJ10514 Ensembl:ENSG00000117593 euGenes: HUgn55157
    ECgene: DARS2 H-InvDB: DARS2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=DARS2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for DARS2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for DARS2-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for DARS2 Antibodies for DARS2
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for DARS2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (DARS2)
     Antibodies (DARS2)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for DARS2




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for DARS2

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