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

MARS2 Gene

protein-coding   GIFtS: 58
GCID: GC02P198570

Methionyl-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
Methionyl-TRNA Synthetase 2, Mitochondrial1 2     Methionine-TRNA Ligase2
Mitochondrial Methionyl-TRNA Synthetase2 3     Methionine-TRNA Synthetase 2 (Mitochondrial)2
EC 6.1.1.103 8     Methionine-TRNA Synthetase 2, Mitochondrial2
Methionine TRNA Ligase 21     Methionyl-TRNA Synthetase, Mitochondrial2
mitochondrial1     Mitochondrial Methionine--TRNA Ligase2
MetRS2     mtMetRS2
Methionine TRNA Ligase 2, Mitochondrial2     MtMetRS3
Methionine--TRNA Ligase 22     Methionyl-TRNA Synthetase 23
Methionine--TRNA Ligase, Mitochondrial2     EC 6.1.18

External Ids:    HGNC: 251331   Entrez Gene: 929352   Ensembl: ENSG000002476267   OMIM: 6097285   UniProtKB: Q96GW93   

Export aliases for MARS2 gene to outside databases

Previous GC identifers: GC02P198396 GC02P198278 GC02P190422


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

GeneCards Summary for MARS2 Gene: 
MARS2 (methionyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with MARS2 include autosomal recessive spastic ataxia with leukoencephalopathy, and ankylosis, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include methionine-tRNA ligase activity and ATP binding.


(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_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MARS2 gene promoter:
         USF1   NRSF form 1   MIF-1   NRSF form 2   C/EBPalpha   AREB6   SRY   NRF-2   USF-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMARS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MARS2


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

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

MARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MARS2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P198570:  view genomic region     (about GC identifiers)

Start:
198,570,028 bp from pter      End:
198,573,114 bp from pter
Size:
3,087 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: SYMM_HUMAN, Q96GW9 (See protein sequence)
Recommended Name: Methionine--tRNA ligase, mitochondrial precursor  
Size: 593 amino acids; 66591 Da
Subcellular location: Mitochondrion matrix (Probable)
Sequence caution: Sequence=AAH09115.1; Type=Erroneous initiation; Sequence=AAH40934.1; Type=Erroneous initiation;
Secondary accessions: A0AVC3 Q76E79 Q8IW62 Q8N7N4

Explore the universe of human proteins at neXtProt for MARS2: NX_Q96GW9

Explore proteomics data for MARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96GW9

  • 4/9 DME Specific Peptides for MARS2 (Q96GW9) (see all 9)
     MSKSLGN  GQKMSKS  TGTDEHG  HIIGKDI 

    MARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MARS2 Protein Expression
    REFSEQ proteins: NP_612404.1  
    ENSEMBL proteins: 
     ENSP00000282276  
    Reactome Protein details: Q96GW9
    Human Recombinant Protein Products for MARS2: 
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    OriGene MassSpec for MARS2 
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    GenScript Custom Purified and Recombinant Proteins Services for MARS2
    Novus Biologicals MARS2 Proteins
    Novus Biologicals MARS2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MARS2 

    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 ----
    GO:0005759mitochondrial matrix TAS--

    MARS2 for ontologies           About GeneDecksing



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    Assay Products for MARS2: 
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    Cloud-Clone Corp. ELISAs for MARS2 
    Cloud-Clone Corp. CLIAs for MARS2


    (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

    4 InterPro protein domains:
     IPR015413 Methionyl/Leucyl_tRNA_Synth
     IPR009080 tRNAsynth_1a_anticodon-bd
     IPR014729 Rossmann-like_a/b/a_fold
     IPR014758 Met-tRNA_synth

    Graphical View of Domain Structure for InterPro Entry Q96GW9

    ProtoNet protein and cluster: Q96GW9

    2 Blocks protein domains:
    IPB002300 Aminoacyl-tRNA synthetase
    IPB002304 Methionyl-tRNA synthetase signature


    UniProtKB/Swiss-Prot: SYMM_HUMAN, Q96GW9
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    MARS2 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: SYMM_HUMAN, Q96GW9
    Catalytic activity: ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met)
    Biophysicochemical properties: Kinetic parameters: KM=18 uM for Met; KM=85 uM for ATP; KM=2.1 uM for tRNA-Met; pH
    dependence: Optimum pH is 7.8-8.2;

         Enzyme Numbers (IUBMB): EC 6.1.1.101 2 EC 6.1.12

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004825methionine-tRNA ligase activity IDA15274629
    GO:0005524ATP binding IEA--
         
    MARS2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MARS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MARS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MARS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MARS2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target MARS2:
    hsa-let-7b (MIRT001618)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MARS2
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MARS2 (see all 26):
    hsa-miR-140-5p hsa-miR-495 hsa-miR-199b-3p hsa-miR-1197 hsa-let-7d hsa-miR-199a-3p hsa-miR-513a-5p hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidMARS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MARS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MARS2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MARS2
    Sirion Biotech Customized adenovirus for overexpression of MARS2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MARS2
    Sirion Biotech Customized lentivirus for stable overexpression of MARS2 
                         Customized lentivirus expression plasmids for stable overexpression of MARS2 

    Cell Line
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    Search LifeMap BioReagents cell lines for MARS2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARS2


    (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 MARS2 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
    3Selenocompound metabolism
    Selenocompound metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for MARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    2         Kegg Pathways  (Kegg details for MARS2):
        Selenocompound metabolism
    Aminoacyl-tRNA biosynthesis


    MARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/38 Interacting proteins for MARS2 (Q96GW93 ENSP000002822764) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2S1P051983, ENSP000002563834I2D: score=1 STRING: ENSP00000256383
    MTIF2P461993, ENSP000002636294I2D: score=1 STRING: ENSP00000263629
    PUS3Q9BZE23, ENSP000002274744I2D: score=1 STRING: ENSP00000227474
    SNRPD2P623163, ENSP000003423744I2D: score=1 STRING: ENSP00000342374
    RQCD1Q926003, ENSP000002730644I2D: score=1 STRING: ENSP00000273064
    About this table

    Gene Ontology (GO): 3 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:0006431methionyl-tRNA aminoacylation IDA15274629
    GO:0010467gene expression TAS--

    MARS2 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 MARS2 (SYMM)

    5 HMDB Compounds for MARS2    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--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Selenomethionine(+-)-Selenomethionine (see all 26)3211-76-5--

    1 DrugBank Compound for MARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3enzymesubstrate17139284 17016423 15274629

    Search CenterWatch for drugs/clinical trials and news about MARS2 / SYMM

    (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 MARS2 gene: 
    NM_138395.3  

    Unigene Cluster for MARS2:

    Methionyl-tRNA synthetase 2, mitochondrial
    Hs.744330  [show with all ESTs]
    Unigene Representative Sequence: NM_138395
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000282276(uc002uuq.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MARS2
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MARS2 (see all 26):
    hsa-miR-140-5p hsa-miR-495 hsa-miR-199b-3p hsa-miR-1197 hsa-let-7d hsa-miR-199a-3p hsa-miR-513a-5p hsa-miR-3129-5p
    SwitchGear 3'UTR luciferase reporter plasmidMARS2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MARS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MARS2
    Clone
    Products:
         
    OriGene clones in human, mouse for MARS2 (see all 7)
    OriGene ORF clones in mouse, rat for MARS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MARS2 (NM_138395)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MARS2
    Sirion Biotech Customized lentivirus for stable overexpression of MARS2 
                         Customized lentivirus expression plasmids for stable overexpression of MARS2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MARS2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MARS2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MARS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MARS2

    Additional mRNA sequence: 

    AB107013.1 AK098121.1 AK301252.1 BC009115.1 BC026361.1 BC040934.2 BC126294.1 

    1 DOTS entry:

    DT.40199005 

    24/38 AceView cDNA sequences (see all 38):

    AA665965 AV648559 NM_138395 BU187587 BC009115 BM052675 AK098121 BF109601 
    BX096776 AA045513 BC026361 CK903898 AB107013 BI092912 BC040934 CD695860 
    BF346273 BE542381 BI261299 BM978246 BM052935 AW294266 BP364784 BF526996 

    GeneLoc Exon Structure


    (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

    MARS2 expression in normal human tissues (normalized intensities)      MARS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGTTTCC
    MARS2 Expression
    About this image


    MARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius muscle   
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer

    See MARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MARS2

    SOURCE GeneReport for Unigene cluster: Hs.744330
        SABiosciences Custom PCR Arrays for MARS2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MARS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MARS2

    (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 MARS2 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mars21 , 5 methionine-tRNA synthetase 2 (mitochondrial)1, 5 83.56(n)1
    86.86(a)1
      1 (28.08 cM)5
    2126791  NM_175439.31  NP_780648.11 
     552371775 
    chicken
    (Gallus gallus)
    Aves MARS21 methionyl-tRNA synthetase 2, mitochondrial 65.17(n)
    66.29(a)
      428689  XM_426247.3  XP_426247.2 
    lizard
    (Anolis carolinensis)
    Reptilia MARS26
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL343451.1(340986-346993)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688502 hypothetical protein MGC68850 75.07(n)    BC055977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5665651 methionyl-tRNA synthetase, mitochondrial-like 59.23(n)
    60.8(a)
      566565  XM_689843.5  XP_694935.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-met1 Methionyl-tRNA synthetase 54.24(n)
    48.05(a)
      41733  NM_142091.4  NP_650348.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y105E8A.201 Protein Y105E8A.20 49.84(n)
    44.81(a)
      173312  NM_001136325.1  NP_001129797.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSM1(YGR171C)4
    MSM11
    Mitochondrial methionyl-tRNA synthetase (MetRS), functions more4
    Msm1p1
    46.29(n)1
    41.16(a)1
      7(842551-840824)4
    8530811, 4  NP_011687.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OVA11 methionyl-tRNA synthetase 46.5(n)
    39.28(a)
      824706  NM_115398.2  NP_191100.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02096001 hypothetical protein 46.85(n)
    37.37(a)
      4332018  NM_001055871.1  NP_001049336.1 


    ENSEMBL Gene Tree for MARS2 (if available)
    TreeFam Gene Tree for MARS2 (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

    10/149 SNPs in MARS2 are shown (see all 149)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1840570471,2
    --198568049(+) ATGAGG/TTTTTT 1 -- us2k10--------
    rs116876981,2
    C,F,H--198568076(+) aaattC/Tcttat 1 -- us2k116Minor allele frequency- T:0.22NS EA NA WA 2334
    rs1893525041,2
    --198568167(+) TTGATA/GGTTTA 1 -- us2k10--------
    rs1428426451,2
    --198568183(+) TGGTGC/TGGAAA 1 -- us2k10--------
    rs1115350551,2
    C,F--198568294(+) TTTCCC/TAGGTT 1 -- us2k13Minor allele frequency- T:0.07CSA WA 120
    rs1157808271,2
    F--198568492(+) AGATGG/ATTGTA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1478450161,2
    --198568577(+) ACAGAA/TTTCGA 1 -- us2k10--------
    rs1398054081,2
    --198568580(+) GAATTC/TGATTG 1 -- us2k10--------
    rs1808006211,2
    --198568884(+) AAAATG/TCAGGA 1 -- us2k10--------
    rs48504371,2
    C,F,A,H--198569051(+) CAGTAG/TGTGGG 1 -- us2k124Minor allele frequency- T:0.32NS EA NA WA CSA 2352

    HapMap Linkage Disequilibrium report for MARS2 (198570028 - 198573114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MARS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821871CNV Gain20364138


    Human Gene Mutation Database (HGMD): MARS2
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MARS2
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    (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: 609728    OMIM disorders: --

    6 diseases for MARS2:    About MalaCards
    autosomal recessive spastic ataxia with leukoencephalopathy    ankylosis    cholelithiasis    pneumonia
    tuberculosis    ataxia


    MARS2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): MARS2
    Human Genome Epidemiology (HuGE) Navigator: MARS2 (1 document)

    Export disorders for MARS2 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 MARS2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human mitochondrial methionyl-tRNA synthetase. (PubMed id 15274629)1, 2, 3, 7, 9 Spencer A.C.... Spremulli L.L. (2004)
    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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    7. Mutations in the mitochondrial methionyl-tRNA syntheta se cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) i n humans. (PubMed id 22448145)1 Bayat V....Bellen H.J. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92935 HGNC: 25133 AceView: MetRS Ensembl:ENSG00000247626 euGenes: HUgn92935
    ECgene: MARS2 Kegg: 92935 H-InvDB: MARS2

    (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 MARS2 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 MARS2 gene:
    Search GeneIP for patents involving MARS2

    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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