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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))
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Aliases
for EARS2 gene

(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
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     gluRS2
Glutamyl-TRNA Synthetase 2, Mitochondrial (Putative)1 2     Glutamate TRNA Ligase 2, Mitochondrial2
EC 6.1.1.173 8     Glutamate--TRNA Ligase2
KIAA19703 5     Probable Glutamate--TRNA Ligase, Mitochondrial2
Glutamate TRNA Ligase 21     Probable Glutamyl-TRNA Synthetase, Mitochondrial2
mitochondrial1     GluRS3
COXPD122     Glutamyl-TRNA Synthetase3
MSE12     

External Ids:    HGNC: 294191   Entrez Gene: 1244542   Ensembl: ENSG000001033567   OMIM: 6127995   UniProtKB: Q5JPH63   
ORGUL members:         
NONCODE14:n406113      

Export aliases for EARS2 gene to outside databases

Previous GC identifers: GC16M023440 GC16M021624


Summaries
for EARS2 gene

(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 Gene:
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)

GeneCards Summary for EARS2 Gene: 
EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with EARS2 include anisometropia, and combined oxidative phosphorylation deficiency 12, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include glutamate-tRNA(Gln) ligase activity and RNA binding.

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)




Genomic Views
for EARS2 gene

(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_000016.9  NC_018927.2  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

Proteins
for EARS2 gene

(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: 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

Explore proteomics data for EARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EARS2 Protein Expression
    REFSEQ proteins: NP_001077083.1  
    ENSEMBL proteins: 
     ENSP00000456467   ENSP00000457107   ENSP00000456218   ENSP00000455789   ENSP00000455519  
     ENSP00000455875   ENSP00000458604   ENSP00000395196  
    Reactome Protein details: Q5JPH6
    Human Recombinant Protein Products for EARS2: 
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    Novus Biologicals EARS2 Protein
    Novus Biologicals EARS2 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EARS2 

    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 IDA19805282
    GO:0005759mitochondrial matrix IEA--

    EARS2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for EARS2 
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    Protein Domains /
    Families
    for EARS2 gene

    (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

    5/8 InterPro protein domains (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 domain: IPB000924 Glutamyl-tRNA synthetase signature

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


    EARS2 for domains           About GeneDecksing


    Function
    for EARS2 gene

    (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: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0000166nucleotide binding ----
    GO:0004818glutamate-tRNA ligase activity IDA19805282
    GO:0005524ATP binding IEA--
    GO:0016876ligase activity, forming aminoacyl-tRNA and related compounds ----
         
    EARS2 for ontologies           About GeneDecksing


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

    EARS2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EARS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EARS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EARS2 
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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*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for EARS2 gene

    (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 EARS2 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
    3Metabolism
    		Metabolic pathways0.40
    4Glucuronidation
    		Porphyrin and chlorophyll metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/27 Interacting proteins for EARS2 (Q5JPH63) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEDD4LQ96PU53I2D: score=3 
    ACO2Q997983I2D: score=1 
    CBSP355203I2D: score=1 
    CCT2P783713I2D: score=1 
    DDX18Q9NVP13I2D: score=1 
    About this table

    Gene Ontology (GO): 5 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:0043039tRNA aminoacylation ----
    GO:0070127tRNA aminoacylation for mitochondrial protein translation IDA19805282

    EARS2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EARS2 gene

    (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 EARS2 (SYEM)

    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

    Transcripts
    for EARS2 gene

    (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 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
    17 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)

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

    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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    Additional mRNA 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

    Expression
    for EARS2 gene

    (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 <intensity>2/3
    CGAP TAG: GCAGCCAGCC
    EARS2 Expression
    About this image


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

    SOURCE GeneReport for Unigene cluster: Hs.620541
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    In Situ
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    Orthologs
    for EARS2 gene

    (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 EARS2 gene from 9/20 species (see all 20)    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) less1, 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) less 69.45(n)
    68.64(a)    		   427672  NM_001031467.1  NP_001026638.1 
    lizard
    (Anolis carolinensis)    		 Reptilia EARS26
    		 Uncharacterized protein
    		 75(a)
    		 1 ↔ 1
    		 GL344022.1(396-10801)
    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 MSE11 Mse1p 43.33(n)
    38.97(a)    		   854124   NP_014609.1 
    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 


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

    Paralogs
    for EARS2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EARS2 gene
    1 SIMAP similar gene for EARS2 using alignment to 8 protein entries:     SYEM_HUMAN (see all proteins):
    A-735G6.3

    EARS2 for paralogs           About GeneDecksing



    Genomic Variants
    for EARS2 gene

    (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

    10/808 SNPs in EARS2 are shown (see all 808)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0692454
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692452 G C mis40--------
    VAR_0692474
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692472 R Q mis40--------
    VAR_0692424
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692422 R G mis40--------
    VAR_0692374
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692372 E K mis40--------
    VAR_0692414
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692412 C Y mis40--------
    VAR_0692364
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692362 K E mis40--------
    VAR_0692394
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692392 R W mis40--------
    VAR_0692404
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692402 G S mis40--------
    VAR_0692444
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692442 G S mis40--------
    VAR_0692384
    		Combined oxidative phosphorylation deficiency 12 (COXPD12)4--see VAR_0692382 R H mis40--------

    HapMap Linkage Disequilibrium report for EARS2 (23533334 - 23569052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EARS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv990394CNV Deletion20482838


    Human Gene Mutation Database (HGMD): EARS2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for EARS2

    Disorders / Diseases
    for EARS2 gene

    (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: 612799    OMIM disorders: --

    UniProtKB/Swiss-Prot: SYEM_HUMAN, Q5JPH6
  • Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive,
    mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor
    development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral
    white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial
    respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills
    after age 2 years, and those with a severe disease course resulting in marked disability. Note=The disease is
    caused by mutations affecting the gene represented in this entry

    • 7 diseases for EARS2:    About MalaCards
    anisometropia    combined oxidative phosphorylation deficiency 12    primary cutaneous amyloidosis    amyloidosis
    myopia    pneumonia    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for EARS2:
    Primary cutaneous amyloidosis     Anisometropia

    EARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EARS2
    Human Genome Epidemiology (HuGE) Navigator: EARS2 (1 document)

    Export disorders for EARS2 gene to outside databases

    Publications
    for EARS2 gene

    (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 19):
    (articles sorted by number of sources associating them with EARS2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Leukoencephalopathy with thalamus and brainstem involv ement and high lactate 'LTBL' caused by EARS2 mutations. (PubMed id 22492562)1, 2, 3 Steenweg M.E....Zeviani M. (2012)
    2. 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)
    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. Biogenesis of glutaminyl-mt tRNAGln in human mitochon dria. (PubMed id 19805282)1, 3 Nagao A....Suzuki T. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. (PubMed id 23008233)2 Talim B.... Horvath R. (2013)
    9. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for EARS2 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)

    Genome Databases showing EARS2 gene

    (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

    Other Databases showing EARS2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1970

    Specialized Databases showing EARS2 gene

    (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

    Intellectual Property
    for EARS2 gene

    (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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    About This Section

     
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