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GARS Gene

protein-coding   GIFtS: 71
GCID: GC07P030600

Glycyl-TRNA Synthetase

(Previous name: Charcot-Marie-Tooth neuropathy 2D)
(Previous symbol: CMT2D)
  See GARS-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)
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Aliases
Glycyl-TRNA Synthetase1 2 3     EC 6.1.1.143 8
CMT2D1 2 5     HMN52 5
Charcot-Marie-Tooth Neuropathy 2D1 2     SMAD12 5
Glycine TRNA Ligase1 2     DSMAV2
Diadenosine Tetraphosphate Synthetase2 3     Charcot-Marie-Tooth Neuropathy, Neuronal Type, D2
GlyRS2 3     Glycine--TRNA Ligase2
AP-4-A Synthetase2 3     

External Ids:    HGNC: 41621   Entrez Gene: 26172   Ensembl: ENSG000001061057   OMIM: 6002875   UniProtKB: P412503   

Export aliases for GARS gene to outside databases

Previous GC identifers: GC07P030276 GC07P030342 GC07P030376 GC07P030407 GC07P030516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GARS Gene:
This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their
cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA
synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or
dermatomyositis. (provided by RefSeq, Jul 2008)

GeneCards Summary for GARS Gene:
GARS (glycyl-tRNA synthetase) is a protein-coding gene. Diseases associated with GARS include gars-associated axonal neuropathy, and distal spinal muscular atrophy, type v. GO annotations related to this gene include protein dimerization activity and glycine-tRNA ligase activity.

UniProtKB/Swiss-Prot: SYG_HUMAN, P41250
Function: Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate
(Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of
2 ATPs

Gene Wiki entry for GARS (Glycylâ€"tRNA synthetase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GARS gene promoter:
         C/EBPbeta   HTF   CUTL1   C/EBPalpha   CHOP-10   FOXO4   HOXA5   Chx10   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): GARS promoter sequence
   Search Chromatin IP Primers for GARS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GARS


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

Entrez Gene cytogenetic band: 7p15   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p15

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P030600:  view genomic region     (about GC identifiers)

Start:
30,634,181 bp from pter      End:
30,673,649 bp from pter
Size:
39,469 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 30,683,834-30,723,301     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYG_HUMAN, P41250 (See protein sequence)
Recommended Name: Glycine--tRNA ligase  
Size: 739 amino acids; 83166 Da
Subunit: Homodimer
Sequence caution: Sequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for GARS (see all 9):
2PME (3D)        2PMF (3D)        2Q5H (3D)        2Q5I (3D)        2ZT5 (3D)        2ZT6 (3D)    
Secondary accessions: B3KQA2 B4DIA0 Q969Y1

Explore the universe of human proteins at neXtProt for GARS: NX_P41250

Explore proteomics data for GARS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys108, Lys197, Lys309, Lys318, Lys379, Lys419, Lys563
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GARS (P41250) (see all 12)
     VIEPSFG  KLRFRQH  GLYDFGP  NEMAHYA 


    See GARS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002038.2  
    ENSEMBL proteins: 
     ENSP00000373918   ENSP00000392677   ENSP00000415447  
    Reactome Protein details: P41250

    GARS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for GARS
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    Novus Biologicals GARS Protein
    Novus Biologicals GARS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for GARS
    Cloud-Clone Corp. Proteins for GARS

     
    Search eBioscience for Proteins for GARS 

     
    antibodies-online proteins for GARS (5 products) 

     
    antibodies-online peptides for GARS

    GARS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GARS
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    ThermoFisher Antibodies for GARS
    antibodies-online antibodies for GARS (27 products) 

    GARS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GARS
    Cloud-Clone Corp. CLIAs for GARS
    Search eBioscience for ELISAs for GARS 
    antibodies-online kits for GARS (14 products) 


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

    Selected InterPro protein domains (see all 7):
     IPR002314 aa-tRNA-synt_IIb_cons-dom
     IPR000738 WHEP-TRS
     IPR006195 aa-tRNA-synth_II
     IPR002315 tRNA-synt_gly
     IPR004154 Anticodon-bd

    Graphical View of Domain Structure for InterPro Entry P41250

    ProtoNet protein and cluster: P41250

    3 Blocks protein domains:
    IPB000738 WHEP-TRS domain
    IPB002315 Glycyl-tRNA synthetase signature
    IPB004154 Anticodon binding domain


    UniProtKB/Swiss-Prot: SYG_HUMAN, P41250
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family
    Similarity: Contains 1 WHEP-TRS domain


    Find genes that share domains with GARS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYG_HUMAN, P41250
    Function: Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate
    (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of
    2 ATPs
    Catalytic activity: ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly)
    Biophysicochemical properties: Kinetic parameters: KM=1.3 uM for tRNA(Gly(GCC)); KM=15 uM for glycine;

         Genatlas biochemistry entry for GARS:
    glycyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis

         Enzyme Number (IUBMB): EC 6.1.1.141 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004820glycine-tRNA ligase activity TAS--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with GARS           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gars):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     normal 

    Find genes that share phenotypes with GARS           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GARS

    miRNA
    Products:
        
    miRTarBase miRNAs that target GARS:
    hsa-mir-16-5p (MIRT032031), hsa-let-7c-5p (MIRT051856), hsa-mir-93-5p (MIRT048848)

    Block miRNA regulation of human, mouse, rat GARS using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GARS:
    hsa-miR-4252 hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmidGARS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GARS
    Predesigned siRNA for gene silencing in human, mouse, rat GARS

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GARS

    Clone
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    OriGene ORF clones in mouse, rat for GARS
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    GenScript: all cDNA clones in your preferred vector: GARS (NM_002047)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GARS
    Addgene plasmids for GARS 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GARS

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12275) for GARS 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYG_HUMAN, P41250: Cytoplasm. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    nucleus3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with GARS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GARS About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.52
    Cytosolic tRNA aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    2Gene Expression
    Gene Expression0.40


    Find genes that share SuperPaths with GARS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for GARS
        Cytosolic tRNA aminoacylation
    Mitochondrial tRNA aminoacylation


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GARS
    Interactions:

        Search GeneGlobe Interaction Network for GARS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GARS (P412502, 3 ENSP000003739184) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELSR2Q9HCU42, 3, ENSP000002713324MINT-65561 I2D: score=3 STRING: ENSP00000271332
    YWHAZP631042, 3, ENSP000003095034MINT-3297340 I2D: score=1 STRING: ENSP00000309503
    IARSP412523, ENSP000003647944I2D: score=2 STRING: ENSP00000364794
    EEF1DP296923, ENSP000003919444I2D: score=2 STRING: ENSP00000391944
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006426glycyl-tRNA aminoacylation IEA--
    GO:0008219cell death IEA--
    GO:0010467gene expression TAS--
    GO:0015966diadenosine tetraphosphate biosynthetic process IDA19710017

    Find genes that share ontologies with GARS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GARS (SYG)

    5 HMDB Compounds for GARS    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--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    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 GARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17433503 17544401 16982409 17035524 17150752

    Selected Novoseek inferred chemical compound relationships for GARS gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trna(gly) 94 10 19284994 (2), 2295596 (1), 19153458 (1), 17183173 (1)
    strychnine 80.9 11 18632940 (2), 19564396 (1), 8393521 (1), 7518444 (1) (see all 9)
    picrotoxinin 72.3 5 17659095 (2), 17714449 (1), 15728760 (1)
    aminoacyl-trna 71.9 2 17035524 (1), 8839980 (1)
    trna 68.2 66 17035524 (4), 7962006 (4), 19710017 (3), 19284994 (2) (see all 14)
    chloride 63.3 6 7826634 (1), 8393521 (1), 19826900 (1), 2155780 (1) (see all 6)
    taurine 61.3 18 11549721 (4), 9459441 (3), 11559772 (2), 7542038 (2) (see all 10)
    beta-alanine 59.1 3 7542038 (2), 7826634 (1)
    picrotoxin 56.7 1 17714449 (1)
    gaba 51 18 14960612 (2), 10332088 (1), 17659095 (1), 11559772 (1) (see all 12)



    Find genes that share compounds with GARS           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GARS gene: 
    NM_002047.2  

    Unigene Cluster for GARS:

    Glycyl-tRNA synthetase
    Hs.404321  [show with all ESTs]
    Unigene Representative Sequence: NM_002047
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389266(uc003tbm.3) ENST00000454308 ENST00000478124 ENST00000484093
    ENST00000470392 ENST00000444666 ENST00000465748 ENST00000485784 ENST00000496643

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate GARS:
    hsa-miR-4252 hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmidGARS 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: GARS (NM_002047)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GARS
      QuantiFast Probe-based Assays in human, mouse, rat GARS
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12275) for GARS 

    Additional mRNA sequence: 

    AK074524.1 AK295490.1 AK310351.1 BC000065.1 BC007722.2 BC007755.2 D30658.1 U09510.1 
    U09587.1 

    Selected DOTS entries (see all 33):

    DT.91779468  DT.452361  DT.95184627  DT.95277064  DT.100855980  DT.92056357  DT.91967510  DT.100742510 
    DT.91779501  DT.100742489  DT.121108571  DT.100742504  DT.99929605  DT.91910171  DT.101986024  DT.121108289 
    DT.121108519  DT.95219393  DT.95249715  DT.95277116  DT.102833601  DT.121108207  DT.121108216  DT.121108235 

    Selected AceView cDNA sequences (see all 725):

    BG284234 BE790882 BQ878996 CB125189 CB131503 CR610689 BQ688223 CD105543 
    BC000065 AA465047 BQ889045 CF139282 BX643258 BM834570 BM741421 CB125458 
    BM793797 BU845116 CB132867 BM671613 AA749147 CA422339 CB118968 AU124387 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GARS (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^
    SP1:                          -                                                                                                           -     -               
    SP2:                          -                       -     -                                                                                                   
    SP3:                          -                                         -                                                                                       
    SP4:                                                                                                                                                            
    SP5:                          -           -     -     -     -     -     -     -                                                                                 

    ExUns: 16a · 16b ^ 17 ^ 18 ^ 19
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for GARS

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    GARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    GARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.404321

    UniProtKB/Swiss-Prot: SYG_HUMAN, P41250
    Tissue specificity: Widely expressed, including brain and spinal cord

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GARS gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gars1 , 5 glycyl-tRNA synthetase1, 5 88.3(n)1
    94.01(a)1
      6 (27.29 cM)5
    3531721  NM_180678.31  NP_851009.21 
     550380015 
    chicken
    (Gallus gallus)
    Aves GARS1 glycyl-tRNA synthetase 81.9(n)
    90.22(a)
      428403  NM_001031510.1  NP_001026681.1 
    lizard
    (Anolis carolinensis)
    Reptilia GARS6
    glycyl-tRNA synthetase
    90(a)
    1 ↔ 1
    6(1391616-1409144)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA988160.12   -- 74.59(n)    CA988160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570838312   -- 76.16(n)    57083831 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67783
    Aats-gly1
    glycine-tRNA ligase3
    Glycyl-tRNA synthetase1
    60(a)3
    58.39(n)1
    60.09(a)1
      71B43
    396441  NM_001274938.11  NP_001261867.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gars-11 gars-1 57.82(n)
    57.68(a)
      175703  NM_065692.3  NP_498093.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRS11 GRS1 54.96(n)
    50.08(a)
      852418   NP_009679.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G298801 AT1G29880 53.61(n)
    50.96(a)
      839866  NM_102728.2  NP_564337.1 
    rice
    (Oryza sativa)
    Liliopsida AK119836.12   -- 74.02(n)    AK119836.1 


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

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

    Find genes that share paralogs with GARS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GARS
    PGOHUM00000237112


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GARS (see all 772)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0187194
    Neuronopathy, distal hereditary motor, 5A (HMN5A)4--see VAR_0187192 L P mis40--------
    VAR_0187204
    Charcot-Marie-Tooth disease 2D (CMT2D)4--see VAR_0187202 G R mis40--------
    rs289369721,2,4
    Charcot-Marie-Tooth disease 2D (CMT2D)4--see VAR_0187182 mis40--------
    rs289373231,2,4
    Neuronopathy, distal hereditary motor, 5A (HMN5A)4--see VAR_0187212 mis40--------
    rs1825815801,2
    --30610602(+) TTTCCC/TTCAAA 1 -- us2k10--------
    rs1868609911,2
    --30610763(+) GCTCAA/CATTCT 1 -- us2k10--------
    rs786986451,2
    C,F--30610778(+) CAACAC/GTCACT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1912728991,2
    --30610794(+) GTGTGA/TCCATG 1 -- us2k10--------
    rs787960371,2
    C--30610840(+) ACATGC/TGAAAA 1 -- us2k10--------
    rs1154789161,2
    F--30610864(+) TAGAAC/TCTATC 1 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for GARS (30634181 - 30673649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GARS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436557CNV Deletion17901297
    nsv527038CNV Gain19592680

    Human Gene Mutation Database (HGMD): GARS
    Locus Specific Mutation Databases (LSDB): GARS

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600287   
    OMIM disorders: 601472  600794  
    UniProtKB/Swiss-Prot: SYG_HUMAN, P41250
  • Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]: A dominant axonal form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in
    the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal
    muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These
    constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in
    the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture
    consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease
    starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs.
    Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper
    limbs. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for GARS:    
    About MalaCards
    gars-associated axonal neuropathy    distal spinal muscular atrophy, type v    charcot-marie-tooth disease type 2d    charcot-marie-tooth neuropathy type 2d
    bscl2-related neurologic disorders/seipinopathy    polymyositis    distal hereditary motor neuropathy type v    dermatomyositis
    neuropathy, distal hereditary motor, type va    distal hereditary motor neuropathy    hyperekplexia    charcot-marie-tooth neuropathy type 2
    spinal muscular atrophy    neuropathy    charcot-marie-tooth disease type 2

    4 diseases from the University of Copenhagen DISEASES database for GARS:
    Distal hereditary motor neuropathy     Progressive myoclonus epilepsy     Myopathy     Neuropathy

    Find genes that share disorders with GARS           About GenesLikeMe

    8 Novoseek inferred disease relationships for GARS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dhmn-v 93.5 11 17663003 (6), 16769947 (2), 12690580 (1)
    hyperekplexia 88.8 4 7518444 (2), 17114051 (1), 17655979 (1)
    spinal muscular atrophy distal 86.8 1 19430273 (1)
    charcot-marie-tooth disease 76.1 9 17545306 (2), 19329989 (1), 17529987 (1), 12690580 (1) (see all 6)
    myositis 35.8 1 7961834 (1)
    dermatomyositis 28.4 1 7961834 (1)
    neurological disorders 9.97 1 17655979 (1)
    neurodegeneration 6.72 4 19593442 (1), 17544401 (1), 17101916 (1)

    GeneTests: GARS
    GeneReviews: GARS
    Genetic Association Database (GAD): GARS
    Human Genome Epidemiology (HuGE) Navigator: GARS (9 documents)

    Export disorders for GARS 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)
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    PubMed articles for GARS gene, integrated from 10 sources (see all 168):
    (articles sorted by number of sources associating them with GARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. (PubMed id 17544401)1, 2, 7, 9 Cader M.Z.... Stammers D.K. (FEBS Lett. 2007)
    2. Crystal structures and biochemical analyses suggest a unique mechanism and role for human glycyl-tRNA synthetase in Ap4A homeostasis. (PubMed id 19710017)1, 2, 9 Guo R.-T.... Yang X.-L. (J. Biol. Chem. 2009)
    3. Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. (PubMed id 7753621)1, 2, 9 Williams J.H.... Power D.A. (Nucleic Acids Res. 1995)
    4. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. (PubMed id 19329989)1, 4, 9 Abe A. and Hayasaka K. (J. Hum. Genet. 2009)
    5. Long-range structural effects of a Charcot-Marie-Tooth disease- causing mutation in human glycyl-tRNA synthetase. (PubMed id 17545306)1, 2, 9 Xie W.... Yang X.-L. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    6. Complex organisation of the 5'-end of the human glycine tRNA synthetase gene. (PubMed id 9524218)1, 2, 9 Mudge S.J....Power D.A. (Gene 1998)
    7. Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation. (PubMed id 7962006)1, 2, 9 Shiba K.... Noda T. (J. Biol. Chem. 1994)
    8. Primary structure and functional expression of human glycyl-tRNA synthetase, an autoantigen in myositis. (PubMed id 7961834)1, 2, 9 Ge Q.... Targoff I.N. (J. Biol. Chem. 1994)
    9. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (PubMed id 12690580)1, 2, 9 Antonellis A.... Green E.D. (Am. J. Hum. Genet. 2003)
    10. Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22. (PubMed id 8595897)1, 3, 9 Nichols R.C....Liu P. (Genomics 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 2617 HGNC: 4162 AceView: GARS Ensembl:ENSG00000106105 euGenes: HUgn2617
    ECgene: GARS Kegg: 2617 H-InvDB: GARS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GARS Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GARS[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for GARS gene:
    Search GeneIP for patents involving GARS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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