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

AARS2 Gene

protein-coding   GIFtS: 59
GCID: GC06M044266

alanyl-tRNA synthetase 2, mitochondrial

(Previous names: alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2,...)
(Previous symbol: AARSL)
 Explore 8 diseases affiliated with
AARS2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AARS2    

Aliases
for AARS2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Alanyl-TRNA Synthetase 2, Mitochondrial1 2     COXPD82
AARSL1 2 3     MT-ALARS2
KIAA12701 3 5     Alanine TRNA Ligase 2, Mitochondrial (Putative)2
Alanyl-TRNA Synthetase 2, Mitochondrial (Putative)1 2     Alanine--TRNA Ligase, Mitochondrial2
Alanyl-TRNA Synthetase Like1 2     Probable Alanyl-TRNA Synthetase, Mitochondrial2
EC 6.1.1.73 8     AlaRS3
MTALARS2 5     Alanyl-TRNA Synthetase3
BA444E17.11     

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


Summaries
for AARS2 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 AARS2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
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 plasmid: AARS2 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

Proteins
for AARS2 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065796.1  
    ENSEMBL proteins: 
     ENSP00000244571  
    Reactome Protein details: Q5JTZ9
    Human Recombinant Protein Products: 
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    Novus Biologicals AARS2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AARS2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    AARS2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AARS2

    Protein Domains /
    Families
    for AARS2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AARS2 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: 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


    Function
    for AARS2 gene

    (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: 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

    miRNA
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    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 plasmid: AARS2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AARS2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AARS2 (see all 3)
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    In Situ Assay
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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:0000049tRNA binding IEA--
    GO:0004813alanine-tRNA ligase activity IMP--
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--


    AARS2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for AARS2 gene

    (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

    Pathway sources
    See GeneCards unified pathways
    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)

    5/240 Interacting proteins for AARS2 (Q5JTZ92, 3 ENSP000002445714) via UniProtKB, MINT, STRING, and/or I2D (see all 240)
    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): 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:0010467gene expression TAS--
    GO:0033108mitochondrial respiratory chain complex assembly IMP--
    GO:0070143mitochondrial alanyl-tRNA aminoacylation IMP--


    AARS2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AARS2 gene

    (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 AARS2

    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 

    Transcripts
    for AARS2 gene

    (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 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

    miRNA
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    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 plasmid: AARS2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AARS2 (see all 7)
    OriGene shRNA RFP: AARS2
    OriGene siRNA: AARS2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AARS2
    Clone
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    Primer
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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 cDNA 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):

    BM042314 BQ642175 BI769677 C01141 CR612653 AI806436 BU146586 BQ883770 
    CK821197 BQ682453 AI381515 BI789129 BG823136 BE794125 BX112088 BG437448 
    BE464558 BE794883 BM745910 BQ071843 BG832342 AL536467 CF785923 AA627815 

    GeneLoc Exon Structure


    Expression
    for AARS2 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

    AARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    AARS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.158381
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS2

    Orthologs
    for AARS2 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 last universal common ancestor (LUCA).

    Orthologs for AARS2 gene from 9/28 species (see all 28)    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
    		 --
    		 58(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-ala-m6
    		 mitochondrial alanyl-tRNA synthetase
    		 29(a)
    		 1 ↔ 1
    		 3L(5139198-5142952)
    worm
    (Caenorhabditis elegans)    		 Secernentea aars-16
    		 Alanine--tRNA ligase, mitochondrial
    		 34(a)
    		 1 ↔ 1
    		 II(11460099-11464015)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ACD6
    EMB866
    		 alanyl-tRNA synthetase
    		 39(a)
    27(a)
    		 many → 1
    possible ortholog
    		 1(18591194-18598481)
    5(7616073-7619981)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 alanyl-tRNA synthetase, putative, expressed
    (see all 3)    		 39(a)
    28(a)
    (see all 3)    		 many → 1
    possible ortholog
    (see all 3)    		 10(5648785-5659654)
    6(7573979-7580554)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria alaS6
    		 alanyl-tRNA synthetase
    		 36(a)
    		 possible ortholog
    		 Chromosome(2817403-2820033)


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

    Paralogs
    for AARS2 gene

    (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



    Genomic Variants
    for AARS2 gene

    (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

    10/368 NCBI SNPs in AARS2 are shown (see all 368)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs350068391,2
    		C,--44266088(+) CTAGT-/AAAAAA 2 -- ds5001 us2k11Minor allele frequency- A:0.00NA 2
    rs1472811461,2
    		--44266242(+) GGGGTA/GCCAAA 2 -- ds5001 us2k10--------
    rs5671921,2
    		C,F,A,H,--44266266(-) TCCTCT/CGCGAG 2 -- ds5001 us2k113Minor allele frequency- C:0.12MN NA WA CSA EA 558
    rs1487366951,2
    		--44266347(+) AAGCAA/GTGAGG 2 -- ds5001 us2k10--------
    rs1422816471,2
    		--44266390(+) CCTCAG/TCAGTG 2 -- ds5001 us2k10--------
    rs1886620641,2
    		--44266396(+) CAGTGC/TCTTAC 2 -- ds5001 us2k10--------
    rs1932688371,2
    		--44266448(+) AAAATA/GATGCC 2 -- ds5001 us2k10--------
    rs1512380951,2
    		--44266457(+) CCAGGC/TGGGCC 2 -- ds5001 us2k10--------
    rs1841366451,2
    		--44266461(+) GCGGGC/GCCACG 2 -- us2k1 ds50010--------
    rs1878752641,2
    		--44266466(+) CCCACA/GCTGCT 2 -- us2k1 ut310--------

    HapMap Linkage Disequilibrium report for AARS2 (44266463 - 44281063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AARS2: --
    Human Gene Mutation Database (HGMD): AARS2

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    Disorders / Diseases
    for AARS2 gene

    (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
    AARS2 for disorders           About GeneDecksing

    OMIM gene information: 612035    OMIM disorders: --

    UniProtKB/Swiss-Prot: SYAM_HUMAN, Q5JTZ9
  • Defects in AARS2 are the cause of combined oxidative phosphorylation deficiency type 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

    8 diseases for AARS2:    About MalaCards
    combined oxidative phosphorylation deficiency    combined oxidative phosphorylation deficiency 8    mitochondrial cardiomyopathy    cardiomyopathy
    pneumonia    tuberculosis    malaria    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: AARS2 (1 document)

    Export disorders for AARS2 gene to outside databases

    Publications
    for AARS2 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 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. 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)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. 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)
    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. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (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)

    External Searches for AARS2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    NCBI Bookshelf
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    Genome Databases showing AARS2 gene

    (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

    Other Databases showing AARS2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1270

    Specialized Databases showing AARS2 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 AARS2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AARS2 gene

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

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