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

AARS2 Gene

protein-coding   GIFtS: 62
GCID: GC06M044266

Alanyl-TRNA Synthetase 2, Mitochondrial

(Previous names: alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial...)
(Previous symbol: AARSL)
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
Alanyl-TRNA Synthetase 2, Mitochondrial1 2     mitochondrial1
AARSL1 2 3     COXPD82
Alanyl-TRNA Synthetase 2, Mitochondrial (Putative)1 2     MT-ALARS2
Alanyl-TRNA Synthetase Like1 2     Alanine TRNA Ligase 2, Mitochondrial (Putative)2
EC 6.1.1.73 8     Alanine--TRNA Ligase, Mitochondrial2
MTALARS2 5     Probable Alanyl-TRNA Synthetase, Mitochondrial2
KIAA12703 5     AlaRS3
Alanine TRNA Ligase 21     Alanyl-TRNA Synthetase3

External Ids:    HGNC: 210221   Entrez Gene: 575052   Ensembl: ENSG000001246087   OMIM: 6120355   UniProtKB: Q5JTZ93   

Export aliases for AARS2 gene to outside databases

Previous GC identifers: GC06M044376 GC06M043988


(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 AARS2 Gene:
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA
synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded
protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause
of combined oxidative phosphorylation deficiency 8. (provided by RefSeq, Dec 2011)

GeneCards Summary for AARS2 Gene: 
AARS2 (alanyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene. Diseases associated with AARS2 include combined oxidative phosphorylation deficiency 8, and mitochondrial cardiomyopathy, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include alanine-tRNA ligase activity and tRNA binding. An important paralog of this gene is AARS.

UniProtKB/Swiss-Prot: SYAM_HUMAN, Q5JTZ9
Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by
ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged
tRNA(Ala) via its editing domain (By similarity)

Gene Wiki entry for AARS2 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_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AARS2 gene promoter:
         Lmo2   LCR-F1   NF-kappaB   C/EBPalpha   CHOP-10   POU2F1   POU2F1a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAARS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AARS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AARS2


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

AARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AARS2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M044266:  view genomic region     (about GC identifiers)

Start:
44,266,463 bp from pter      End:
44,281,063 bp from pter
Size:
14,601 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYAM_HUMAN, Q5JTZ9 (See protein sequence)
Recommended Name: Alanine--tRNA ligase, mitochondrial precursor  
Size: 985 amino acids; 107340 Da
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Monomer (By similarity)
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAA86584.1; Type=Erroneous initiation;
Secondary accessions: A2RRN5 Q8N198 Q96D02 Q9ULF0

Explore the universe of human proteins at neXtProt for AARS2: NX_Q5JTZ9

Explore proteomics data for AARS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5JTZ9

  • 4/16 DME Specific Peptides for AARS2 (Q5JTZ9) (see all 16)
     VVADHIR  TFFEMLG  HTATHLL  VRVVSVG 

    AARS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AARS2 Protein Expression
    REFSEQ proteins: NP_065796.1  
    ENSEMBL proteins: 
     ENSP00000244571  
    Reactome Protein details: Q5JTZ9
    Human Recombinant Protein Products for AARS2: 
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    Novus Biologicals AARS2 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AARS2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--

    AARS2 for ontologies           About GeneDecksing



    AARS2 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for AARS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    aaRS2: Aminoacyl tRNA synthetases / Class II

    5/7 InterPro protein domains (see all 7):
     IPR002318 Ala-tRNA-lgiase_IIc
     IPR018163 Thr/Ala-tRNA-synth_IIc_edit
     IPR023033 Ala_tRNA_ligase_euk/bac
     IPR018162 Ala-tRNA-ligase_IIc_anticod-bd
     IPR018165 Ala-tRNA-synth_IIc_core

    Graphical View of Domain Structure for InterPro Entry Q5JTZ9

    ProtoNet protein and cluster: Q5JTZ9

    1 Blocks protein domain: IPB002318 Alanyl-tRNA synthetase signature

    UniProtKB/Swiss-Prot: SYAM_HUMAN, Q5JTZ9
    Domain: Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala
    domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala),
    serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating
    deacylation of misacylated tRNAs (By similarity)
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    AARS2 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: SYAM_HUMAN, Q5JTZ9
    Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by
    ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged
    tRNA(Ala) via its editing domain (By similarity)
    Catalytic activity: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala)

         Enzyme Number (IUBMB): EC 6.1.1.71 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0004813alanine-tRNA ligase activity IMP--
    GO:0005524ATP binding IEA--
         
    AARS2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AARS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AARS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AARS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AARS2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AARS2
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate AARS2:
    hsa-miR-221* hsa-miR-569 hsa-miR-149 hsa-miR-4297 hsa-miR-3065-5p hsa-miR-24 hsa-miR-764
    SwitchGear 3'UTR luciferase reporter plasmidAARS2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS2


    (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 AARS2 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 AARS2
        tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


    1         Kegg Pathway  (Kegg details for AARS2):
        Aminoacyl-tRNA biosynthesis


    AARS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/254 Interacting proteins for AARS2 (Q5JTZ92, 3 ENSP000002445714) via UniProtKB, MINT, STRING, and/or I2D (see all 254)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEGF10Q96KG73, ENSP000002744734I2D: score=2 STRING: ENSP00000274473
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    YWHAQP273483, ENSP000002380814I2D: score=1 STRING: ENSP00000238081
    DDA1Q9BW613I2D: score=1 
    WIPI2Q9Y4P83I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006419alanyl-tRNA aminoacylation ----
    GO:0010467gene expression TAS--
    GO:0033108mitochondrial respiratory chain complex assembly IMP--
    GO:0043039tRNA aminoacylation ----

    AARS2 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 AARS2 (SYAM)

    1 HMDB Compound for AARS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--

    1 DrugBank Compound for AARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--8601277 17139284 7742303 17016423 10871402

    Search CenterWatch for drugs/clinical trials and news about AARS2 / SYAM

    (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 AARS2 gene: 
    NM_020745.3  

    Unigene Cluster for AARS2:

    Alanyl-tRNA synthetase 2, mitochondrial
    Hs.158381  [show with all ESTs]
    Unigene Representative Sequence: NM_020745
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244571(uc010jza.1) ENST00000491573
    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 AARS2
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate AARS2:
    hsa-miR-221* hsa-miR-569 hsa-miR-149 hsa-miR-4297 hsa-miR-3065-5p hsa-miR-24 hsa-miR-764
    SwitchGear 3'UTR luciferase reporter plasmidAARS2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AARS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARS2
    Sirion Biotech Customized lentivirus for stable overexpression of AARS2 
                         Customized lentivirus expression plasmids for stable overexpression of AARS2 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AARS2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AARS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AARS2

    Additional mRNA sequence: 

    AB033096.1 BC013593.1 BC021131.1 BC033169.1 BC041026.1 BC128175.1 BC131728.1 

    7 DOTS entries:

    DT.110699  DT.208413  DT.95376032  DT.100025489  DT.121344622  DT.91953897  DT.99927375 

    24/121 AceView cDNA sequences (see all 121):

    BI789129 BM042314 AI381515 CR612653 BQ682453 AI806436 BQ883770 C01141 
    BQ642175 BI769677 BU146586 CK821197 BM729180 AI942297 AI183453 BI603994 
    BI859749 BX112088 BM563226 BM545479 BG823136 BQ071815 NM_182539 BG721099 

    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

    AARS2 expression in normal human tissues (normalized intensities)      AARS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AARS2 Expression
    About this image


    AARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot

    See AARS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AARS2

    SOURCE GeneReport for Unigene cluster: Hs.158381
        SABiosciences Custom PCR Arrays for AARS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS2

    (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 animals and fungi.

    Orthologs for AARS2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aars21 , 5 alanyl-tRNA synthetase 2, mitochondrial (putative)1, 5 83.2(n)1
    83.57(a)1
      17 (22.51 cM)5
    2248051  NM_198608.21  NP_941010.21 
     455068415 
    chicken
    (Gallus gallus)
    Aves AARS21 alanyl-tRNA synthetase 2, mitochondrial (putative) 65.3(n)
    64.36(a)
      421436  NM_001031056.1  NP_001026227.1 
    lizard
    (Anolis carolinensis)
    Reptilia AARS26
    Uncharacterized protein
    59(a)
    1 ↔ 1
    1(228171688-228205320)
    zebrafish
    (Danio rerio)
    Actinopterygii aars21 alanyl-tRNA synthetase 2, mitochondrial (putative) 60.01(n)
    58.04(a)
      792787  XM_001332352.4  XP_001332388.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-ala6
    Aats-ala-m6
    mitochondrial alanyl-tRNA synthetase
    42(a)
    31(a)
    many → 1
    possible ortholog
    2L(8378262-8381764)
    3L(5139198-5142952)
    worm
    (Caenorhabditis elegans)
    Secernentea aars-26
    aars-16
    Alanine--tRNA ligase, mitochondrial
    42(a)
    35(a)
    many → 1
    possible ortholog
    I(3983171-3986915)
    II(11460163-11464079)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALA16
    Cytoplasmic and mitochondrial alanyl-tRNA syntheta...
    38(a)
    1 → many
    XV(946233-949109)


    ENSEMBL Gene Tree for AARS2 (if available)
    TreeFam Gene Tree for AARS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AARS2 gene
    AARS2  
    1 SIMAP similar gene for AARS2 using alignment to 2 protein entries:     SYAM_HUMAN (see all proteins):
    AARS

    AARS2 for paralogs           About GeneDecksing



    (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

    10/544 SNPs in AARS2 are shown (see all 544)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659574
    Combined oxidative phosphorylation deficiency 8 (COXPD8)4--see VAR_0659572 R W mis40--------
    VAR_0659564
    Combined oxidative phosphorylation deficiency 8 (COXPD8)4--see VAR_0659562 L R mis40--------
    VAR_0276094
    ----see VAR_0276092 I V mis40--------
    rs1472811461,2
    --44177137(+) GGGGTA/GCCAAA 1 -- ds50010--------
    rs5671921,2
    C,F,A,H--44177161(-) TCCTCT/CGCGAG 1 -- ds500113Minor allele frequency- C:0.12MN NA WA CSA EA 558
    rs1487366951,2
    C--44177242(+) AAGCAA/GTGAGG 1 -- ds50010--------
    rs1422816471,2
    --44177285(+) CCTCAG/TCAGTG 1 -- ds50010--------
    rs1886620641,2
    --44177291(+) CAGTGC/TCTTAC 1 -- ds50010--------
    rs1932688371,2
    --44177343(+) AAAATA/GATGCC 1 -- ds50010--------
    rs1512380951,2
    --44177352(+) CCAGGC/TGGGCC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for AARS2 (44266463 - 44281063 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AARS2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv462936CNV Loss19166990
    dgv6843n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): AARS2
    SABiosciences Cancer Mutation PCR Assays
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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: 612035    OMIM disorders: --

    UniProtKB/Swiss-Prot: SYAM_HUMAN, Q5JTZ9
  • Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]: A mitochondrial disease
    characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some
    neurologic involvement. The liver is not affected. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for AARS2:    About MalaCards
    combined oxidative phosphorylation deficiency 8    mitochondrial cardiomyopathy    hypertrophic cardiomyopathy    pneumonia
    tuberculosis


    AARS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AARS2
    Human Genome Epidemiology (HuGE) Navigator: AARS2 (1 document)

    Export disorders for AARS2 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 AARS2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with AARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (PubMed id 21549344)1, 2, 3 Gotz A.... Suomalainen A. (2011)
    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. 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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    7. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (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: 57505 HGNC: 21022 AceView: AARSLandMGC33600 Ensembl:ENSG00000124608 euGenes: HUgn57505
    ECgene: AARS2 Kegg: 57505 H-InvDB: AARS2

    (According to HUGE)
    About This Section
    HUGE: KIAA1270

    (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 AARS2 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 AARS2 gene:
    Search GeneIP for patents involving AARS2

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

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