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

IARS2 Gene

protein-coding   GIFtS: 61
GCID: GC01P220267

Isoleucyl-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
Isoleucyl-TRNA Synthetase 2, Mitochondrial1 2     Isoleucine-TRNA Synthetase 2, Mitochondrial2
EC 6.1.1.53 8     Isoleucyl-TRNA Synthetase, Mitochondrial2
Isoleucine TRNA Ligase 21     Mitochondrial Isoleucine TRNA Synthetase2
mitochondrial1     IleRS3
ILERS2     Isoleucyl-TRNA Synthetase3
Isoleucine TRNA Ligase 2, Mitochondrial2     EC 6.1.18
Isoleucine--TRNA Ligase, Mitochondrial2     

External Ids:    HGNC: 296851   Entrez Gene: 556992   Ensembl: ENSG000000677047   OMIM: 6128015   UniProtKB: Q9NSE43   

Export aliases for IARS2 gene to outside databases

Previous GC identifers: GC01P216656 GC01P218334 GC01P190941


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

GeneCards Summary for IARS2 Gene: 
IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with IARS2 include pneumonia, and diabetes mellitus, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include aminoacyl-tRNA editing activity and isoleucine-tRNA ligase activity.


(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_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IARS2 gene promoter:
         FOXD3   Ik-3   GATA-2   Arnt   GATA-1   HEN1   CBF-A   FOXJ2 (long isoform)   FOXJ2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIARS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for IARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IARS2


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

IARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IARS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P220267:  view genomic region     (about GC identifiers)

Start:
220,267,444 bp from pter      End:
220,321,383 bp from pter
Size:
53,940 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: SYIM_HUMAN, Q9NSE4 (See protein sequence)
Recommended Name: Isoleucine--tRNA ligase, mitochondrial precursor  
Size: 1012 amino acids; 113792 Da
Subcellular location: Mitochondrion matrix (By similarity)
Sequence caution: Sequence=BAA91544.1; Type=Frameshift; Positions=879; Sequence=BAB14164.1; Type=Erroneous
initiation;
Secondary accessions: B2RPG8 Q1M2P9 Q6PI85 Q7L439 Q86WU9 Q96D91 Q9H9Q8 Q9NW42

Explore the universe of human proteins at neXtProt for IARS2: NX_Q9NSE4

Explore proteomics data for IARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NSE4

  • 4/24 DME Specific Peptides for IARS2 (Q9NSE4) (see all 24)
     SLLTSVA  GHALNKI  YPYDWRT  SRQRVWG 

    IARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IARS2 Protein Expression
    REFSEQ proteins: NP_060530.3  
    ENSEMBL proteins: 
     ENSP00000355889   ENSP00000303279  
    Reactome Protein details: Q9NSE4
    Human Recombinant Protein Products for IARS2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IARS2 

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

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

    IARS2 for ontologies           About GeneDecksing



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    Assay Products for IARS2: 
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    Cloud-Clone Corp. CLIAs for IARS2


    (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

    5/9 InterPro protein domains (see all 9):
     IPR010663 Znf_DNA_glyclase/IsotRNA_synth
     IPR013155 V/L/I-tRNA-synth_anticodon-bd
     IPR002300 aa-tRNA-synth_Ia
     IPR023585 Ile-tRNA-ligase_type1
     IPR001412 aa-tRNA-synth_I_CS

    Graphical View of Domain Structure for InterPro Entry Q9NSE4

    ProtoNet protein and cluster: Q9NSE4

    2 Blocks protein domains:
    IPB002300 Aminoacyl-tRNA synthetase
    IPB002301 Isoleucyl-tRNA synthetase signature


    UniProtKB/Swiss-Prot: SYIM_HUMAN, Q9NSE4
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    IARS2 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: SYIM_HUMAN, Q9NSE4
    Catalytic activity: ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile)

         Enzyme Numbers (IUBMB): EC 6.1.1.51 2 EC 6.1.12

         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:0000166nucleotide binding ----
    GO:0002161aminoacyl-tRNA editing activity IEA--
    GO:0003824catalytic activity ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004822isoleucine-tRNA ligase activity IEA--
         
    IARS2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for IARS2:
     Decreased viability  Increased viability after born  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IARS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IARS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IARS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IARS2 

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate IARS2:
    hsa-miR-3163 hsa-miR-532-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidIARS2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IARS2


    (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 IARS2 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 IARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    1         Kegg Pathway  (Kegg details for IARS2):
        Aminoacyl-tRNA biosynthesis


    IARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/26 Interacting proteins for IARS2 (Q9NSE42, 3 ENSP000003032794) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72670 I2D: score=3 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    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:0006428isoleucyl-tRNA aminoacylation IEA--
    GO:0010467gene expression TAS--

    IARS2 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 IARS2 (SYIM)

    5 HMDB Compounds for IARS2    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-Isoleucine(2S,3S)-2-Amino-3-methylpentanoate (see all 33)73-32-5--
    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 IARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Isoleucine(2S,3S)-2-Amino-3-methylpentanoic acid (see all 11)73-32-5target--15663927 16697013 14672940 17095543 12783542

    Search CenterWatch for drugs/clinical trials and news about IARS2 / SYIM

    (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 IARS2 gene: 
    NM_018060.3  

    Unigene Cluster for IARS2:

    Isoleucyl-tRNA synthetase 2, mitochondrial
    Hs.262823  [show with all ESTs]
    Unigene Representative Sequence: AY267462
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366922(uc001hmc.3) ENST00000490891 ENST00000488777 ENST00000467924
    ENST00000302637
    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 IARS2
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate IARS2:
    hsa-miR-3163 hsa-miR-532-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidIARS2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IARS2
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    OriGene ORF clones in mouse, rat for IARS2
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    GenScript: all cDNA clones in your preferred vector: IARS2 (NM_018060)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IARS2
    Sirion Biotech Customized lentivirus for stable overexpression of IARS2 
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for IARS2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IARS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IARS2

    Additional mRNA sequence: 

    AK001188.1 AK001726.1 AK022665.1 AK291432.1 AY267462.1 AY952883.1 BC010218.1 BC040376.1 
    BC047880.1 BC137438.1 D28500.1 

    18 DOTS entries:

    DT.99934757  DT.121336558  DT.95214751  DT.453718  DT.92444800  DT.121336545  DT.75150403  DT.95214749 
    DT.97854650  DT.100822365  DT.121336583  DT.121336617  DT.92444799  DT.95214813  DT.95214815  DT.99966773 
    DT.418095  DT.91910585 

    24/291 AceView cDNA sequences (see all 291):

    AK001188 AU118659 AI863816 CB306156 F05557 BG620018 AA962169 AA826687 
    BM983024 BQ232685 CB159777 BF981431 AW268711 AW408732 AU280007 BG740287 
    D28500 AA926661 CR606160 CB135334 AA704695 AA548731 AW167114 AI858947 

    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

    IARS2 expression in normal human tissues (normalized intensities)      IARS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAAATATA
    IARS2 Expression
    About this image


    IARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

    See IARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IARS2

    SOURCE GeneReport for Unigene cluster: Hs.262823
        SABiosciences Custom PCR Arrays for IARS2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IARS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IARS2

    (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 IARS2 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 Iars21 , 5 isoleucine-tRNA synthetase 2, mitochondrial1, 5 81.59(n)1
    83.4(a)1
      1 (89.48 cM)5
    3813141  NM_198653.21  NP_941055.11 
     1852847265 
    chicken
    (Gallus gallus)
    Aves IARS21 isoleucyl-tRNA synthetase 2, mitochondrial 73.83(n)
    72.42(a)
      421346  NM_001006397.1  NP_001006397.1 
    lizard
    (Anolis carolinensis)
    Reptilia IARS26
    Uncharacterized protein
    72(a)
    1 ↔ 1
    1(243279117-243316004)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377244062   -- 80.85(n)    137724406 
    zebrafish
    (Danio rerio)
    Actinopterygii iars21 isoleucine-tRNA synthetase 2, mitochondrial 61.99(n)
    62.51(a)
      100001219  NM_001163798.1  NP_001157270.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG54141 CG5414 50.13(n)
    42.4(a)
      39762  NM_140580.2  NP_648837.2 
    worm
    (Caenorhabditis elegans)
    Secernentea iars-21 Protein IARS-2 46.37(n)
    36.31(a)
      172884  NM_001025836.2  NP_001021007.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ISM1(YPL040C)4
    ISM11
    Mitochondrial isoleucyl-tRNA synthetase, null mutant more4
    Ism1p1
    49.8(n)1
    40.4(a)1
      16(479001-475993)4
    8560671, 4  NP_015285.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons OVA21 isoleucyl-tRNA synthetase 50.61(n)
    43.61(a)
      834962  NM_001203568.1  NP_001190497.1 
    rice
    (Oryza sativa)
    Liliopsida AK065948.12   -- 74.2(n)    AK065948.1 


    ENSEMBL Gene Tree for IARS2 (if available)
    TreeFam Gene Tree for IARS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IARS2 gene

    IARS2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IARS2
    PGOHUM00000249423


    (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

    10/985 SNPs in IARS2 are shown (see all 985)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867931041,2
    --220265541(+) AGCCCA/TGTTAT 1 -- us2k10--------
    rs789254571,2
    C,F--220265597(+) TTTTAA/GCTGTC 1 -- us2k11Minor allele frequency- G:0.07WA 118
    rs788136701,2
    C,F--220265600(+) TAACTG/CTCTAT 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs730965751,2
    C,F--220265735(+) TTGCCC/TAGGCA 1 -- us2k15Minor allele frequency- T:0.08WA CSA NA EA 362
    rs1126657341,2
    F--220265747(+) GAGTGC/TAGTGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs730965771,2
    C,F--220266155(+) TATGCA/GCACAC 1 -- us2k15Minor allele frequency- G:0.08WA CSA NA EA 362
    rs794982481,2
    C,F--220266267(+) GAAATG/AGAAAT 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1915822551,2
    --220266579(+) AACAAA/TTGTGA 1 -- us2k10--------
    rs1122886351,2
    F--220266703(+) CTTAAG/AAAAAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1864800721,2
    --220266738(+) AAAATA/CTATGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IARS2 (220267444 - 220321383 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for IARS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723162CNV Deletion23290073
    esv2676354CNV Deletion23128226
    esv2107700CNV Deletion18987734
    esv2663970CNV Deletion23128226
    esv2665152CNV Deletion23128226
    nsv832636CNV Loss17160897

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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: 612801    OMIM disorders: --

    2 diseases for IARS2:    About MalaCards
    pneumonia    diabetes mellitus


    IARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IARS2
    Human Genome Epidemiology (HuGE) Navigator: IARS2 (2 documents)

    Export disorders for IARS2 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 IARS2 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with IARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PubMed id 19209188)1, 4 Reiling E....Dekker J.M. (2009)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    8. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

    (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: 55699 HGNC: 29685 AceView: FLJ10326 Ensembl:ENSG00000067704 euGenes: HUgn55699
    ECgene: IARS2 Kegg: 55699 H-InvDB: IARS2

    (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 IARS2 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 IARS2 gene:
    Search GeneIP for patents involving IARS2

    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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