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

YARS2 Gene

protein-coding   GIFtS: 63
GCID: GC12M032880

Tyrosyl-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
Tyrosyl-TRNA Synthetase 2, Mitochondrial1 2     MT-TYRRS2
EC 6.1.1.13 8     Tyrosine TRNA Ligase 2, Mitochondrial2
MLASA22 5     Tyrosine--TRNA Ligase, Mitochondrial2
TYRRS2 5     TyrRS3
mitochondrial1     Tyrosyl-TRNA Synthetase3
Tyrosine TRNA Ligase 21     

External Ids:    HGNC: 242491   Entrez Gene: 510672   Ensembl: ENSG000001391317   OMIM: 6109575   UniProtKB: Q9Y2Z43   

Export aliases for YARS2 gene to outside databases

Previous GC identifers: GC12M032789 GC12M032899 GC12M032651


(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 YARS2 Gene:
This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in
this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). (provided
by RefSeq, Jan 2011)

GeneCards Summary for YARS2 Gene: 
YARS2 (tyrosyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with YARS2 include lactic acidosis, and myopathy, lactic acidosis, and sideroblastic anemia 2, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include tyrosine-tRNA ligase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: SYYM_HUMAN, Q9Y2Z4
Function: Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by
ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity)




(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_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the YARS2 gene promoter:
         c-Fos   AP-1   FOXF2   JunB   Fra-1   FosB   Arnt   AREB6   JunD   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for YARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat YARS2


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

Entrez Gene cytogenetic band: 12p11.21   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11.21

YARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
YARS2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M032880:  view genomic region     (about GC identifiers)

Start:
32,880,424 bp from pter      End:
32,908,887 bp from pter
Size:
28,464 bases      Orientation:
minus 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: SYYM_HUMAN, Q9Y2Z4 (See protein sequence)
Recommended Name: Tyrosine--tRNA ligase, mitochondrial precursor  
Size: 477 amino acids; 53199 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
2 PDB 3D structures from and Proteopedia for YARS2:
2PID (3D)        3ZXI (3D)    
Secondary accessions: D3DUW8 Q9H817

Explore the universe of human proteins at neXtProt for YARS2: NX_Q9Y2Z4

Explore proteomics data for YARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2Z4

  • 4/9 DME Specific Peptides for YARS2 (Q9Y2Z4) (see all 9)
     GKRNFYI  YCGFDPT  DSLHVGH  ALVGGAT 

    YARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    YARS2 Protein Expression
    REFSEQ proteins: NP_001035526.1  
    ENSEMBL proteins: 
     ENSP00000320658   ENSP00000447710  
    Reactome Protein details: Q9Y2Z4
    Human Recombinant Protein Products for YARS2: 
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    Novus Biologicals YARS2 Proteins
    Novus Biologicals YARS2 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for YARS2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    YARS2 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: 
    aaRS1: Aminoacyl tRNA synthetases / Class I

    5/6 InterPro protein domains (see all 6):
     IPR001412 aa-tRNA-synth_I_CS
     IPR024088 Tyr-tRNA-ligase_bac-type
     IPR002942 S4_RNA-bd
     IPR002307 Tyr-tRNA-ligase
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q9Y2Z4

    ProtoNet protein and cluster: Q9Y2Z4

    1 Blocks protein domain: IPB002307 Tyrosyl-tRNA synthetase signature

    UniProtKB/Swiss-Prot: SYYM_HUMAN, Q9Y2Z4
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    YARS2 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: SYYM_HUMAN, Q9Y2Z4
    Function: Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by
    ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity)
    Catalytic activity: ATP + L-tyrosine + tRNA(Tyr) = AMP + diphosphate + L-tyrosyl-tRNA(Tyr)

         Enzyme Number (IUBMB): EC 6.1.1.11 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding TAS15779907
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004831tyrosine-tRNA ligase activity TAS--
    GO:0005524ATP binding TAS15779907
         
    YARS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for YARS2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for YARS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for YARS2

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (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 YARS2 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 YARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    1         Kegg Pathway  (Kegg details for YARS2):
        Aminoacyl-tRNA biosynthesis


    YARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for YARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/257 Interacting proteins for YARS2 (Q9Y2Z42, 3 ENSP000003206584) via UniProtKB, MINT, STRING, and/or I2D (see all 257)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    USP49Q70CQ13, ENSP000002972294I2D: score=2 STRING: ENSP00000297229
    CDC20Q128343, ENSP000003084504I2D: score=2 STRING: ENSP00000308450
    GTF2BQ004033I2D: score=5 
    CNOT6Q9ULM63I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation NAS10810093
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006437tyrosyl-tRNA aminoacylation ----
    GO:0010467gene expression TAS--
    GO:0043039tRNA aminoacylation IDA15779907

    YARS2 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

    YARS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for YARS2 (SYYM)

    5 HMDB Compounds for YARS2    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-Tyrosine(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)60-18-4--
    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 YARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Tyrosine2-Amino-3-(p-hydroxyphenyl)propionic acid (see all 3)60-18-4target--12097643 17139284 15840835 17016423 12754495

    1 Novoseek inferred chemical compound relationship for YARS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 35.9 1 18268021 (1)

    Search CenterWatch for drugs/clinical trials and news about YARS2 / SYYM

    (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 YARS2 gene (2 alternative transcripts): 
    NM_001040436.2  NM_015936.1  

    Unigene Cluster for YARS2:

    Tyrosyl-tRNA synthetase 2, mitochondrial
    Hs.505231  [show with all ESTs]
    Unigene Representative Sequence: NM_001040436
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551673 ENST00000324868(uc001rli.3) ENST00000548490
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate YARS2:
    hsa-miR-148b* hsa-miR-516b hsa-miR-580 hsa-miR-342-3p hsa-miR-3680
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AK024057.1 AK026619.1 AK130935.1 BC015625.2 

    8 DOTS entries:

    DT.100766389  DT.100811471  DT.100811473  DT.100811476  DT.101982967  DT.92036555  DT.455783  DT.100656281 

    24/169 AceView cDNA sequences (see all 169):

    AA831619 AK026619 BQ935733 AL550526 CR600056 BU616843 BM788583 CR621180 
    AA393651 BI091472 BE873633 AI653357 CR602460 BC015625 CR613924 BQ690039 
    AI658738 BQ948022 BE468152 BU624190 CR603090 AA576313 AA903035 CD672300 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for YARS2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:                                                
    SP2:                    -                           


    ECgene alternative splicing isoforms for YARS2

    (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

    YARS2 expression in normal human tissues (normalized intensities)      YARS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGATCAGG
    YARS2 Expression
    About this image


    YARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)
             mandibular prominence tissue e10.0   
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Head Mesenchyme (Muscoskeletal System)
             mandibular prominence tissue e10.0   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

    See YARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for YARS2

    SOURCE GeneReport for Unigene cluster: Hs.505231
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for YARS2

    (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 YARS2 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Yars21 , 5 tyrosyl-tRNA synthetase 2 (mitochondrial)1, 5 83.86(n)1
    85.77(a)1
      16 (10.11 cM)5
    701201  NM_198246.21  NP_937889.11 
     163029655 
    chicken
    (Gallus gallus)
    Aves YARS21 tyrosyl-tRNA synthetase 2, mitochondrial 71.54(n)
    69.84(a)
      418131  XM_416363.3  XP_416363.2 
    lizard
    (Anolis carolinensis)
    Reptilia YARS26
    Uncharacterized protein
    63(a)
    1 ↔ 1
    5(10145183-10151114)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144202 Xenopus laevis transcribed sequence with moderate similarity more 74.53(n)    BJ082604.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi41d102 Danio rerio cDNA clone IMAGE5411243, partial cds 72.96(n)    BC055576.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169121 CG16912 53.47(n)
    48.67(a)
      37965  NM_138123.2  NP_611967.1 
    worm
    (Caenorhabditis elegans)
    Secernentea yars-11 Protein YARS-1 46.86(n)
    37.73(a)
      177237  NM_171324.3  NP_741382.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSY1(YPL097W)4
    MSY11
    Mitochondrial tyrosyl-tRNA synthetase4
    Msy1p1
    46.5(n)1
    35.75(a)1
      16(364952-366430)4
    8560071, 4  NP_015228.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons emb27681 tyrS tyrosyl-tRNA synthetase 48.88(n)
    39.43(a)
      821282  NM_111134.4  NP_186915.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05009001 hypothetical protein 49.23(n)
    39.8(a)
      4324476  NM_001049666.1  NP_001043131.1 


    ENSEMBL Gene Tree for YARS2 (if available)
    TreeFam Gene Tree for YARS2 (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

    10/306 SNPs in YARS2 are shown (see all 306)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0641884
    Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2)4--see VAR_0641882 F L mis40--------
    VAR_0686464
    Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2)4--see VAR_0686462 G D mis40--------
    rs37899791,2
    C,F--32768273(+) GTGCAC/TGCCAC 1 -- int16Minor allele frequency- T:0.33NA CSA 12
    rs110522171,2
    C--32768274(+) TGCATA/GCCACC 1 -- int10--------
    rs359315811,2
    C,F--32768319(+) GGTTTC/TGCCAT 1 -- int12Minor allele frequency- T:0.50NA 4
    rs1828425761,2
    --32768641(+) GGCTAC/TAGCGT 1 -- int10--------
    rs767651781,2
    C,F--32768701(+) TCTGAA/TTGTTA 1 -- int11Minor allele frequency- T:0.04WA 118
    rs748102511,2
    F--32768772(+) TTTTGG/AGTAGA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1871666501,2
    --32768784(+) ACGGAA/GTCTCA 1 -- int10--------
    rs1405931211,2
    --32768793(+) CACTAC/TGTCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for YARS2 (32880424 - 32908887 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for YARS2: --

    Human Gene Mutation Database (HGMD): YARS2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing YARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for YARS2

    (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: 610957   
    OMIM disorders: 613561  
    UniProtKB/Swiss-Prot: SYYM_HUMAN, Q9Y2Z4
  • Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561]: A rare oxidative
    phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic
    anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic
    acidemia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for YARS2:    About MalaCards
    lactic acidosis    myopathy, lactic acidosis, and sideroblastic anemia 2    sideroblastic anemia    x-linked sideroblastic anemia
    myopathy    anemia    pneumonia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for YARS2:
    Sideroblastic anemia

    YARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): YARS2
    Human Genome Epidemiology (HuGE) Navigator: YARS2 (1 document)

    Export disorders for YARS2 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 YARS2 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with YARS2)
        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. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (PubMed id 22504945)1, 2 Sasarman F.... Shoubridge E.A. (2012)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. (PubMed id 20598274)1, 2 Riley L.G....Christodoulou J. (2010)
    5. Human mitochondrial TyrRS disobeys the tyrosine identity rules. (PubMed id 15840810)1, 3 Bonnefond L....Rudinger-Thirion J. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    9. Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features. (PubMed id 17997975)1, 9 Bonnefond L....Rudinger-Thirion J. (2007)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      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)
    About This Section
    Entrez Gene: 51067 HGNC: 24249 AceView: CGI-04 Ensembl:ENSG00000139131 euGenes: HUgn51067
    ECgene: YARS2 Kegg: 51067 H-InvDB: YARS2

    (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 YARS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for YARS2 gene:
    Search GeneIP for patents involving YARS2

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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