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

EARS2 Gene

protein-coding   GIFtS: 59
GCID: GC16M023533

glutamyl-tRNA synthetase 2, mitochondrial

(Previous names: glutamyl-tRNA synthetase 2, mitochondrial (putative) )
 Explore 8 diseases affiliated with
EARS2 via our new
 Human Malady Compendium 
Biological research products
for EARS2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Glutamyl-TRNA Synthetase 2, Mitochondrial1 2     Glutamate TRNA Ligase 2, Mitochondrial2
KIAA19701 3 5     Glutamate--TRNA Ligase2
MSE11 2     Probable Glutamate--TRNA Ligase, Mitochondrial2
Glutamyl-TRNA Synthetase 2, Mitochondrial (Putative)1 2     Probable Glutamyl-TRNA Synthetase, Mitochondrial2
EC 6.1.1.173 8     GluRS3
COXPD122     Glutamyl-TRNA Synthetase3
GluRS3     

External Ids:    HGNC: 294191   Entrez Gene: 1244542   Ensembl: ENSG000001033567   OMIM: 6127995   UniProtKB: Q5JPH63   
ORGUL members:         
NONCODE:n406113    

Export aliases for EARS2 gene to outside databases

Previous GC identifers: GC16M023440 GC16M021624


(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 EARS2:
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded
by this gene belongs to the class-I aminoacyl-tRNA synthetase family and catalyzes the attachment of glutamate to
tRNA(Glu). Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6
Function: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by
ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EARS2 gene promoter:
         E2F-4   E2F-3a   NF-1   E2F-5   p53   E2F-2   PPAR-alpha   E2F   E2F-1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for EARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EARS2


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.3

EARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EARS2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M023533:  view genomic region     (about GC identifiers)

Start:
23,533,334 bp from pter      End:
23,569,052 bp from pter
Size:
35,719 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6 (See protein sequence)
Recommended Name: Probable glutamate--tRNA ligase, mitochondrial precursor  
Size: 523 amino acids; 58689 Da
Subcellular location: Mitochondrion matrix (By similarity)
Secondary accessions: B3KTT2 D3DWF1 Q8TF31

Explore the universe of human proteins at neXtProt for EARS2: NX_Q5JPH6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JPH6

  • 4/10 DME Specific Peptides for EARS2 (Q5JPH6) (see all 10)
     HLPLLLN  LRLEDTD  GGLRTAL  TPRYDNR 

    EARS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001077083.1  
    ENSEMBL proteins: 
     ENSP00000456467   ENSP00000457107   ENSP00000456218   ENSP00000455789   ENSP00000455519  
     ENSP00000455875   ENSP00000458604   ENSP00000395196   ENSP00000343488  
    Reactome Protein details: Q5JPH6
    Human Recombinant Protein Products: 
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    Novus Biologicals EARS2 Protein
    Novus Biologicals EARS2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EARS2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA19805282
    GO:0005759mitochondrial matrix IEA--


    EARS2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    EARS2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR001412 aa-tRNA-synth_I_CS
     IPR004527 Glu-tRNA-ligase_Ib_bac/mito
     IPR020061 Glu/Gln-tRNA-synth_Ib_a-bdl
     IPR008925 aa-tRNA-synth_I_codon-bd
     IPR020058 Glu/Gln-tRNA-synth_Ib_cat-dom

    Graphical View of Domain Structure for InterPro Entry Q5JPH6

    ProtoNet protein and cluster: Q5JPH6

    1 Blocks protein family: IPB000924 Glutamyl-tRNA synthetase signature

    UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6
    Function: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by
    ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) (By similarity)
    Catalytic activity: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu)

    Enzyme Number (IUBMB): EC 6.1.1.171 2

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate EARS2 (see all 14):
    hsa-miR-495 hsa-miR-631 hsa-miR-146a hsa-miR-3065-5p hsa-miR-548o hsa-miR-3661 hsa-miR-520a-5p hsa-miR-182*
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004818glutamate-tRNA ligase activity IDA19805282
    GO:0005524ATP binding IEA--
    GO:0050561glutamate-tRNA(Gln) ligase activity IDA19805282


    EARS2 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ears2):
     mortality/aging 

    EARS2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1tRNA Aminoacylation
    tRNA Aminoacylation1.00
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.54
    2Generic Transcription Pathway
    Gene Expression0.46
    3Metabolism
    Metabolic pathways0.38
    4Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for EARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    3         Kegg Pathways  (Kegg details for EARS2):
        Porphyrin and chlorophyll metabolism
    Aminoacyl-tRNA biosynthesis
    Metabolic pathways


    EARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/45 Interacting proteins for EARS2 (Q5JPH63 ENSP000003434884) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NEDD4LQ96PU53I2D: score=3 
    ACO2Q997983I2D: score=1 
    CBSP355203I2D: score=1 
    CCT2P783713I2D: score=1 
    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:0006424glutamyl-tRNA aminoacylation IDA19805282
    GO:0010467gene expression TAS--
    GO:0070127tRNA aminoacylation for mitochondrial protein translation IDA19805282


    EARS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 EARS2

    7 HMDB Compounds for EARS2    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--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    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 EARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17161369

    Search CenterWatch for drugs/clinical trials and news about EARS2 / SYEM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EARS2 gene: 
    NM_001083614.1  

    Unigene Cluster for EARS2:

    Glutamyl-tRNA synthetase 2, mitochondrial
    Hs.620541  [show with all ESTs]
    Unigene Representative Sequence: NM_001083614
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563459 ENST00000564987 ENST00000564776 ENST00000564759 ENST00000564501
    ENST00000563232(uc002dlu.3) ENST00000565344 ENST00000562402 ENST00000566017
    ENST00000564668 ENST00000564461 ENST00000562581 ENST00000561859 ENST00000564997
    ENST00000563499 ENST00000562799 ENST00000449606(uc002dlr.4 uc002dls.4 uc002dlt.4)
    ENST00000341597

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    hsa-miR-495 hsa-miR-631 hsa-miR-146a hsa-miR-3065-5p hsa-miR-548o hsa-miR-3661 hsa-miR-520a-5p hsa-miR-182*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AB075850.1 AF088053.1 AK095998.1 AL832489.1 BC020592.1 BC040013.1 BX648129.1 NR_003501.1 

    18 DOTS entries:

    DT.100844821  DT.448238  DT.100781219  DT.120691069  DT.100027545  DT.100008435  DT.95275717  DT.95099257 
    DT.120691009  DT.120691084  DT.91713220  DT.95199993  DT.95218806  DT.120690960  DT.120690994  DT.120691020 
    DT.100781217  DT.97784815 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EARS2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                                                                          
    SP2:        -     -     -                                                                     
    SP3:                                                                                          
    SP4:                    -                                                                     


    ECgene alternative splicing isoforms for EARS2

    (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

    EARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGCCAGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See EARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EARS2

    SOURCE GeneReport for Unigene cluster: Hs.620541
        SABiosciences Custom PCR Arrays for EARS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EARS2

    (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 last universal common ancestor (LUCA).

    Orthologs for EARS2 gene from 10/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ears21 , 5 glutamyl-tRNA synthetase 2 (mitochondrial)(putative)1, 5 84.83(n)1
    85.09(a)1
      7 (65.30 cM)5
    674171  NM_026140.21  NP_080416.11 
     1220372135 
    chicken
    (Gallus gallus)
    Aves EARS21 glutamyl-tRNA synthetase 2, mitochondrial (putative) 69.45(n)
    68.64(a)
      427672  NM_001031467.1  NP_001026638.1 
    lizard
    (Anolis carolinensis)
    Reptilia EARS26
    --
    74(a)
    1 ↔ 1
    GL344022.1(396-9563)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1532471 zgc:153247 62.26(n)
    60.12(a)
      751732  NM_001045442.1  NP_001038907.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45731 CG4573 54.05(n)
    50.53(a)
      39828  NM_140637.2  NP_648894.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ears-21 Protein EARS-2 45.82(n)
    40.04(a)
      176860  NM_067516.3  NP_499917.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSE1(YOL033W)4
    MSE11
    Mitochondrial glutamyl-tRNA synthetase, predicted to more4
    Mse1p1
    43.33(n)1
    38.97(a)1
      15(263475-265085)4
    8541241, 4  NP_014609.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERS1 glutamyl-tRNA synthetase 45.14(n)
    40.48(a)
      836526  NM_125801.3  NP_201210.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01210001 hypothetical protein 45.77(n)
    41.4(a)
      4328118  NM_001052249.1  NP_001045714.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria gltX6
    glutamyl-tRNA synthetase
    29(a)
    1 ↔ 1
    Chromosome(2517279-2518694)


    ENSEMBL Gene Tree for EARS2 (if available)
    TreeFam Gene Tree for EARS2 (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, UniProtKB, 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

    10/562 NCBI SNPs in EARS2 are shown (see all 562    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10601701,2
    C,--21623657(-) ACGTCC/TTAATG 2 -- int12Minor allele frequency- T:0.12NA 122
    rs620314601,2
    C,--21623778(+) ACACTC/TACTTG 2 -- int12Minor allele frequency- T:0.09NA 122
    rs80469381,2
    C,--21624065(+) CTGACA/GCCTGG 2 -- nc-transcript-variantut312Minor allele frequency- G:0.05CSA WA 120
    rs133349571,2
    C,F,H,--21624203(+) GAACAA/CCTTTT 2 -- nc-transcript-variantut3118Minor allele frequency- C:0.12NS EA NA WA 2360
    rs1134777731,2
    C,--21624861(+) TGGAAT/CTGAAG 2 -- ut31 nc-transcript-variant3Minor allele frequency- C:0.03NA WA 240
    rs118645111,2
    C,H,--21624971(+) ACCTGG/AAAGCT 2 -- ut31 nc-transcript-variantese33Minor allele frequency- A:0.03NA WA 240
    rs73427351,2
    C,F,H,--21624997(+) AAGCGA/GTCAAA 2 -- ut31 nc-transcript-variant16Minor allele frequency- G:0.02NS EA NA WA 1642
    rs727761161,2
    C,F,--21625032(+) NNNNTT/CATGAC 2 -- nc-transcript-variantut311Minor allele frequency- C:0.02NA 120
    rs118645691,2
    H--21625139(+) tagaaG/Aaaggc 2 -- nc-transcript-variantut314Minor allele frequency- A:0.00NS EA 390
    rs102391,2
    --21625221(+) TGTACC/TCTGCC 2 -- ut31 nc-transcript-variantese31Minor allele frequency- T:0.00MN 184

    HapMap Linkage Disequilibrium report for EARS2 (23533334 - 23569052 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EARS2: --
    Human Gene Mutation Database (HGMD): EARS2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for EARS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    EARS2 for disorders           About GeneDecksing

    OMIM gene information: 612799    OMIM disorders: --

    8 diseases for EARS2:    About MalaCards
    primary cutaneous amyloidosis    anisometropia    amyloidosis    myopia
    pneumonia    tuberculosis    malaria    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for EARS2:
    Primary cutaneous amyloidosis     Anisometropia
    Human Genome Epidemiology (HuGE) Navigator: EARS2 (1 document)

    Export disorders for EARS2 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 EARS2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with EARS2)
        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. Leukoencephalopathy with thalamus and brainstem involv ement and high lactate 'LTBL' caused by EARS2 mutations. (PubMed id 22492562)1, 3 Steenweg M.E....Zeviani M. (2012)
    3. Biogenesis of glutaminyl-mt tRNAGln in human mitochon dria. (PubMed id 19805282)1, 3 Nagao A....Suzuki T. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (2001)
    6. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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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: 124454 HGNC: 29419 Ensembl:ENSG00000103356 euGenes: HUgn124454 ECgene: EARS2 Kegg: 124454
    H-InvDB: EARS2

    (According to HUGE)
    About This Section
    HUGE: KIAA1970

    (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 EARS2 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 EARS2 gene:
    Search GeneIP for patents involving EARS2

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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