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Aliases for GARS Gene

Aliases for GARS Gene

  • Glycyl-TRNA Synthetase 2 3 4 5
  • Diadenosine Tetraphosphate Synthetase 3 4
  • Charcot-Marie-Tooth Neuropathy 2D 2 3
  • AP-4-A Synthetase 3 4
  • GlyRS 3 4
  • Charcot-Marie-Tooth Neuropathy, Neuronal Type, D 3
  • Glycine--TRNA Ligase 3
  • Glycine TRNA Ligase 2
  • EC 3.6.1.17 4
  • EC 6.1.1.14 4
  • DSMAV 3
  • SMAD1 3
  • CMT2D 3
  • HMN5 3

External Ids for GARS Gene

Previous HGNC Symbols for GARS Gene

  • CMT2D

Previous GeneCards Identifiers for GARS Gene

  • GC07P030276
  • GC07P030342
  • GC07P030376
  • GC07P030407
  • GC07P030600
  • GC07P030516

Summaries for GARS Gene

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for GARS Gene

GARS (Glycyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with GARS include Charcot-Marie-Tooth Disease, Axonal, Type 2D and Neuronopathy, Distal Hereditary Motor, Type Va. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and aminoacyl-tRNA ligase activity.

UniProtKB/Swiss-Prot for GARS Gene

  • Catalyzes the ligation of glycine to the 3-end of its cognate tRNA. Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs.

Gene Wiki entry for GARS Gene

Additional gene information for GARS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GARS Gene

Genomics for GARS Gene

GeneHancer (GH) Regulatory Elements for GARS Gene

Promoters and enhancers for GARS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J030593 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1589 5.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ENSG00000196295 GARS GC07M030589 ENSG00000244480 ENSG00000226874 PLEKHA8 ENSG00000263683 ZNRF2P2 DKFZP586I1420 FKBP14
GH07J030548 Enhancer 1.1 Ensembl ENCODE 11 -44.2 -44183 3.8 PKNOX1 FOXA2 ZNF48 ZNF766 ZNF143 FOS REST ZNF518A MIER3 MAFF ENSG00000281039 ENSG00000263683 ENSG00000196295 NOD1 GARS LOC401320
GH07J030432 Enhancer 0.8 Ensembl ENCODE 10 -161.3 -161332 1.1 FOXA2 RXRA ZNF10 RAD21 FOXA1 YY1 NR2F2 SP1 POLR2A HNF4A NOD1 GARS ENSG00000272638 LOC101928268
GH07J030428 Enhancer 0.7 Ensembl ENCODE 10 -164.6 -164588 2.8 SP1 NFIC GATA3 NFIB RXRA ZNF133 NOD1 GARS ZNRF2 ENSG00000272638 LOC101928268
GH07J030509 Enhancer 0.6 ENCODE 10.7 -85.2 -85185 0.2 SMARCE1 PKNOX1 RFX1 GATAD2B DPF2 ZNF217 CTBP1 GATA3 RCOR1 CUX1 NOD1 GARS GGCT ENSG00000244480 ENSG00000281039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GARS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GARS gene promoter:
  • C/EBPbeta
  • CUTL1
  • HTF
  • FOXO4
  • RSRFC4
  • C/EBPalpha
  • CHOP-10
  • Chx10
  • Pax-4a
  • HOXA5

Genomic Locations for GARS Gene

Genomic Locations for GARS Gene
chr7:30,594,565-30,634,033
(GRCh38/hg38)
Size:
39,469 bases
Orientation:
Plus strand
chr7:30,634,181-30,673,649
(GRCh37/hg19)
Size:
39,469 bases
Orientation:
Plus strand

Genomic View for GARS Gene

Genes around GARS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GARS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GARS Gene

Proteins for GARS Gene

  • Protein details for GARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41250-GARS_HUMAN
    Recommended name:
    Glycine--tRNA ligase
    Protein Accession:
    P41250
    Secondary Accessions:
    • B3KQA2
    • B4DIA0
    • Q969Y1

    Protein attributes for GARS Gene

    Size:
    739 amino acids
    Molecular mass:
    83166 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAA57001.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA86443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GARS Gene

neXtProt entry for GARS Gene

Post-translational modifications for GARS Gene

  • Ubiquitination at Lys563, isoforms=419, Lys379, isoforms=318, Lys309, Lys197, and isoforms=108
  • Modification sites at PhosphoSitePlus

Other Protein References for GARS Gene

No data available for DME Specific Peptides for GARS Gene

Domains & Families for GARS Gene

Gene Families for GARS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GARS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41250

UniProtKB/Swiss-Prot:

GARS_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with GARS: view

Function for GARS Gene

Molecular function for GARS Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the ligation of glycine to the 3-end of its cognate tRNA. Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly).
UniProtKB/Swiss-Prot CatalyticActivity:
P(1),P(4)-bis(5-guanosyl) tetraphosphate + H(2)O = GTP + GMP.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.3 uM for tRNA(Gly(GCC)) {ECO:0000269 PubMed:17544401}; KM=15 uM for glycine {ECO:0000269 PubMed:17544401}; KM=0.74 uM for tRNA(Gly) {ECO:0000269 PubMed:28675565}; Note=Kcat is 0.049 (sec-1) for aminoacylation for tRNA(Gly). {ECO:0000269 PubMed:28675565};
GENATLAS Biochemistry:
glycyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis

Enzyme Numbers (IUBMB) for GARS Gene

Gene Ontology (GO) - Molecular Function for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004081 bis(5-nucleosyl)-tetraphosphatase (asymmetrical) activity IDA,IEA 19710017
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004820 glycine-tRNA ligase activity TAS --
GO:0005515 protein binding IPI 17545306
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GARS: view
genes like me logo Genes that share phenotypes with GARS: view

Human Phenotype Ontology for GARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GARS Gene

miRTarBase miRNAs that target GARS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GARS

Clone Products

  • Addgene plasmids for GARS

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GARS Gene

Localization for GARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GARS Gene

Cytoplasm. Cell projection, axon. Secreted. Secreted, exosome. Note=Secreted by motor neuron, possibly through the exosome pathway (By similarity). In transfected COS7 cells, not detected in mitochondria, nor in Golgi apparatus (PubMed:17035524). {ECO:0000250 UniProtKB:Q9CZD3, ECO:0000269 PubMed:17035524}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GARS gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm TAS 7961834
GO:0005739 mitochondrion IEA,IBA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GARS: view

Pathways & Interactions for GARS Gene

genes like me logo Genes that share pathways with GARS: view

Pathways by source for GARS Gene

Gene Ontology (GO) - Biological Process for GARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS,IMP --
GO:0006426 glycyl-tRNA aminoacylation IBA,IEA --
GO:0015966 diadenosine tetraphosphate biosynthetic process IDA 19710017
GO:0070150 mitochondrial glycyl-tRNA aminoacylation IBA --
genes like me logo Genes that share ontologies with GARS: view

No data available for SIGNOR curated interactions for GARS Gene

Drugs & Compounds for GARS Gene

(20) Drugs for GARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 254
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(8) Additional Compounds for GARS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GARS: view

Transcripts for GARS Gene

mRNA/cDNA for GARS Gene

Unigene Clusters for GARS Gene

Glycyl-tRNA synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GARS

Clone Products

  • Addgene plasmids for GARS

Alternative Splicing Database (ASD) splice patterns (SP) for GARS Gene

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: - - - - - - - -
SP6: - - -
SP7:
SP8:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GARS Gene

GeneLoc Exon Structure for
GARS
ECgene alternative splicing isoforms for
GARS

Expression for GARS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GARS Gene

Protein differential expression in normal tissues from HIPED for GARS Gene

This gene is overexpressed in Bone marrow stromal cell (13.8) and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GARS Gene



Protein tissue co-expression partners for GARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GARS Gene:

GARS

SOURCE GeneReport for Unigene cluster for GARS Gene:

Hs.404321

mRNA Expression by UniProt/SwissProt for GARS Gene:

P41250-GARS_HUMAN
Tissue specificity: Widely expressed, including in brain and spinal cord.

Evidence on tissue expression from TISSUES for GARS Gene

  • Nervous system(5)
  • Eye(4.7)
  • Liver(4.7)
  • Muscle(4.5)
  • Skin(4.4)
  • Kidney(4.1)
  • Lung(3.9)
  • Intestine(3.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GARS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GARS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GARS Gene

Orthologs for GARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GARS 34 33
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GARS 34 33
  • 92.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GARS 34 33
  • 91.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gars 33
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Gars 16 34 33
  • 88.3 (n)
oppossum
(Monodelphis domestica)
Mammalia GARS 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GARS 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GARS 34 33
  • 81.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GARS 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gars 33
  • 75.57 (n)
zebrafish
(Danio rerio)
Actinopterygii gars 34 33
  • 74.67 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6778 35
  • 60 (a)
Aats-gly 34 33
  • 58.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008604 33
  • 59.39 (n)
worm
(Caenorhabditis elegans)
Secernentea gars-1 34 33
  • 57.82 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08932g 33
  • 55.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL373W 33
  • 55.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRS1 34 33
  • 54.96 (n)
OneToMany
GRS2 34
  • 47 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G29880 33
  • 53.61 (n)
rice
(Oryza sativa)
Liliopsida Os08g0538000 33
  • 55.32 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.6079 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes grs1 33
  • 53.91 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00405 33
  • 53.55 (n)
Species where no ortholog for GARS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GARS Gene

ENSEMBL:
Gene Tree for GARS (if available)
TreeFam:
Gene Tree for GARS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GARS: view image

Paralogs for GARS Gene

Pseudogenes.org Pseudogenes for GARS Gene

genes like me logo Genes that share paralogs with GARS: view

No data available for Paralogs for GARS Gene

Variants for GARS Gene

Sequence variations from dbSNP and Humsavar for GARS Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1049402 benign, not specified, Distal spinal muscular atrophy, Charcot-Marie-Tooth, Type 2, Peripheral axonal neuropathy, Charcot-Marie-Tooth disease type 2D, Distal hereditary motor neuronopathy type 5 30,595,045(+) C/A/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1060502836 uncertain-significance, Charcot-Marie-Tooth disease, type 2 30,616,050(+) G/A coding_sequence_variant, missense_variant
rs1060502837 uncertain-significance, Charcot-Marie-Tooth disease, type 2 30,626,244(+) A/G coding_sequence_variant, missense_variant
rs1060502838 pathogenic, Charcot-Marie-Tooth disease, type 2 30,621,448(+) A/G coding_sequence_variant, missense_variant
rs1060502839 likely-pathogenic, Charcot-Marie-Tooth disease, type 2 30,628,565(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GARS Gene

Variant ID Type Subtype PubMed ID
nsv527038 CNV gain 19592680
nsv436557 CNV deletion 17901297
nsv1148830 OTHER inversion 26484159
nsv1068321 OTHER inversion 25765185
nsv1024458 CNV loss 25217958
esv2761316 CNV gain 21179565
dgv6316n100 CNV gain 25217958

Variation tolerance for GARS Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GARS Gene

Human Gene Mutation Database (HGMD)
GARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GARS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GARS Gene

Disorders for GARS Gene

MalaCards: The human disease database

(13) MalaCards diseases for GARS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GARS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GARS_HUMAN
  • 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. {ECO:0000269 PubMed:12690580, ECO:0000269 PubMed:17035524, ECO:0000269 PubMed:17101916, ECO:0000269 PubMed:17663003, ECO:0000269 PubMed:20169446, ECO:0000269 PubMed:24604904, ECO:0000269 PubMed:25168514, ECO:0000269 PubMed:26244500, ECO:0000269 PubMed:26503042}. Note=The disease is caused by mutations affecting the gene represented in this entry. Contrary to the wild-type protein, CMT2D variants Gly-125 and Arg-294 strongly interact with NRP1. This interaction may compete out VEGFA binding and inhibits VEGFA-NRP1 signling which is essential for motor neuron survival, as suggested by experiments done in a mouse model. {ECO:0000269 PubMed:26503042}.
  • 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. {ECO:0000269 PubMed:12690580, ECO:0000269 PubMed:17035524, ECO:0000269 PubMed:23279345, ECO:0000269 PubMed:24627108, ECO:0000269 PubMed:26503042}. Note=The disease is caused by mutations affecting the gene represented in this entry. Contrary to the wild-type protein, HMN5A variant Pro-183 strongly interacts with NRP1. This interaction may compete out VEGFA binding and inhibits VEGFA-NRP1 signling which is essential for motor neuron survival, as suggested by experiments done in a mouse model. {ECO:0000269 PubMed:26503042}.

Additional Disease Information for GARS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GARS: view

No data available for Genatlas for GARS Gene

Publications for GARS Gene

  1. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. (PMID: 17544401) Cader MZ … Stammers DK (FEBS letters 2007) 3 4 22 25 58
  2. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. (PMID: 17035524) Antonellis A … Green ED (The Journal of neuroscience : the official journal of the Society for Neuroscience 2006) 3 4 22 25 58
  3. Crystal structures and biochemical analyses suggest a unique mechanism and role for human glycyl-tRNA synthetase in Ap4A homeostasis. (PMID: 19710017) Guo RT … Yang XL (The Journal of biological chemistry 2009) 3 4 22 58
  4. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. (PMID: 19329989) Abe A … Hayasaka K (Journal of human genetics 2009) 3 22 44 58
  5. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. (PMID: 17545306) Xie W … Yang XL (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58

Products for GARS Gene

Sources for GARS Gene

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