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

GARS Gene

protein-coding   GIFtS: 70
GCID: GC07P030600

Glycyl-TRNA Synthetase

(Previous name: Charcot-Marie-Tooth neuropathy 2D)
(Previous symbol: CMT2D)
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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 distal spinal muscular atrophy, type v, and charcot-marie-tooth disease type 2d, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GARS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: SYG_HUMAN, P41250 (See protein sequence)
Recommended Name: Glycine--tRNA ligase  
Size: 739 amino acids; 83166 Da
Subunit: Homodimer
Subcellular location: Cytoplasm. Mitochondrion
Sequence caution: Sequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/9 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41250

  • 4/12 DME Specific Peptides for GARS (P41250) (see all 12)
     VIEPSFG  KLRFRQH  GLYDFGP  NEMAHYA 

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

    GARS Protein Expression
    REFSEQ proteins: NP_002038.2  
    ENSEMBL proteins: 
     ENSP00000373918   ENSP00000392677   ENSP00000415447  
    Reactome Protein details: P41250
    Human Recombinant Protein Products for GARS: 
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    Novus Biologicals GARS Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GARS 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--
    GO:0030141secretory granule IEA--

    GARS for ontologies           About GeneDecksing



    GARS Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for GARS 

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    Cloud-Clone Corp. CLIAs for GARS


    (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):
     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


    GARS 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: 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): 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:0004812aminoacyl-tRNA ligase activity ----
    GO:0004820glycine-tRNA ligase activity TAS--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    GARS for ontologies           About GeneDecksing


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

    GARS for phenotypes           About GeneDecksing

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

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

    miRNA
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    miRTarBase miRNAs that target GARS:
    hsa-mir-155 (MIRT001500), hsa-mir-26a (MIRT002340)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GARS
    2 QIAGEN miScript miRNA 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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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of GARS 

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


    (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 GARS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.54
    Cytosolic tRNA aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for GARS
        Cytosolic tRNA aminoacylation
    tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


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


    GARS for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/109 Interacting proteins for GARS (P412502, 3 ENSP000003739184) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    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 (GO ID links to tree view):    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

    GARS 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

    GARS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/24 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)

    Search CenterWatch for drugs/clinical trials and news about GARS / SYG

    (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 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

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

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GARS:
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    Inhib. RNA
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    Additional mRNA sequence: 

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

    24/33 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 

    24/725 AceView cDNA sequences (see all 725):

    BQ882325 CA419531 AI963202 BM852837 BU677078 BM746518 CB528573 BE208035 
    AA343581 AA115800 BM826711 CB149853 BQ688223 AA286991 AA489558 AA284438 
    BM454377 AA373049 AA749147 AI075755 BI012913 BG284234 BE328845 CB131503 

    GeneLoc Exon Structure

    5/8 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™, 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

    GARS expression in normal human tissues (normalized intensities)      GARS embryonic expression: see
    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 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     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   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/ventricle   

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

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GARS gene from 10/25 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 87.79(n)1
    92.59(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
    Uncharacterized protein
    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_168605.11  NP_730022.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gars-11 Protein GARS-1 57.82(n)
    57.68(a)
      175703  NM_065692.2  NP_498093.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRS11 Grs1p 54.8(n)
    50.08(a)
      852418   NP_009679.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G298801 glycyl-tRNA synthetase 1 53.43(n)
    50.74(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)
    About This Section
    Paralogs for GARS gene

    GARS for paralogs           About GeneDecksing


    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) 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

    10/772 SNPs in GARS are shown (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--------
    VAR_0187184
    Charcot-Marie-Tooth disease 2D (CMT2D)4--see VAR_0187182 E G mis40--------
    VAR_0187214
    Neuronopathy, distal hereditary motor, 5A (HMN5A)4--see VAR_0187212 G R 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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for GARS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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 regeneration 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

  • 20/30 diseases for GARS (see all 30):    About MalaCards
    distal spinal muscular atrophy, type v    charcot-marie-tooth disease type 2d    charcot-marie-tooth neuropathy type 2d    gars-associated axonal neuropathy
    charcot-marie-tooth neuropathy    bscl2-related neurologic disorders/seipinopathy    distal hereditary motor neuropathy type v    dermatomyositis
    polymyositis    distal hereditary motor neuropathy    charcot-marie-tooth neuropathy type 2    hyperekplexia
    spinal muscular atrophy    neuropathy    charcot-marie-tooth disease type 2    muscular atrophy
    appendicitis    charcot-marie-tooth disease    tooth disease    axonal neuropathy

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

    GARS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for GARS gene, integrated from 9 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. (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. (2009)
    3. Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. (PubMed id 7753621)1, 2, 9 Williams J.H.... Power D.A. (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. (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. (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. (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. (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. (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. (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. (1995)

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

    (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 GARS Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GARS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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