This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutatio... See more...

Aliases for NARS2 Gene

Aliases for NARS2 Gene

  • Asparaginyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Asparaginyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • Asparagine TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • Probable Asparagine--TRNA Ligase, Mitochondrial 3 4
  • Deafness, Autosomal Recessive 94 2 3
  • EC 6.1.1.22 4 52
  • AsnRS 3 4
  • Probable Asparaginyl-TRNA Synthetase, Mitochondrial 3
  • Asparaginyl-TRNA Synthetase 4
  • EC 6.1.1 52
  • DFNB94 3
  • SLM5 3

External Ids for NARS2 Gene

Previous HGNC Symbols for NARS2 Gene

  • DFNB94

Previous GeneCards Identifiers for NARS2 Gene

  • GC11M077825
  • GC11M078147
  • GC11M074444

Summaries for NARS2 Gene

Entrez Gene Summary for NARS2 Gene

  • This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

GeneCards Summary for NARS2 Gene

NARS2 (Asparaginyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with NARS2 include Combined Oxidative Phosphorylation Deficiency 24 and Deafness, Autosomal Recessive 94. Among its related pathways are Ectoderm Differentiation and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and aminoacyl-tRNA ligase activity. An important paralog of this gene is NARS1.

Additional gene information for NARS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NARS2 Gene

Genomics for NARS2 Gene

GeneHancer (GH) Regulatory Elements for NARS2 Gene

Promoters and enhancers for NARS2 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
GH11J078573 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 539.1 +0.4 373 3.4 FOXK2 EP300 SIN3A NRF1 POLR2G PHF8 JUND ZFX ZNF639 POLR2A NARS2 lnc-GAB2-2 lnc-USP35-15-001 AAMDC lnc-TENM4-5
GH11J078576 Enhancer 0.9 ENCODE 506.4 -2.0 -1958 0.8 POLR2G KDM6A TCF7 CUX1 ZBTB25 TGIF2 TEAD1 TBX3 SIN3A FOXA2 NARS2 lnc-GAB2-2 lnc-USP35-15-001 RNU6-311P RF00026-194
GH11J078415 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +156.7 156677 6.7 HNRNPK ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 POLR2G SP1 PHF8 GAB2 NARS2 ENSG00000254649 KCTD21-AS1 ENSG00000254420
GH11J078560 Enhancer 0.7 ENCODE 38.6 +13.2 13173 3.2 JUND FOS TCF7 FOXA2 SRF FOSL2 JUN SPI1 ASH2L BATF NARS2 LOC101928896 RF00017-995 lnc-TENM4-5 lnc-GAB2-2
GH11J078423 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 15.8 +148.6 148631 4.9 USF1 EP300 RELA HINFP TAF9B MXI1 BCL11A NCOR1 NFRKB ZNF316 NARS2 ENSG00000254649 LINC02728 piR-38351-081 ENSG00000254420
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NARS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NARS2

Top Transcription factor binding sites by QIAGEN in the NARS2 gene promoter:
  • AP-4
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • MZF-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for NARS2 Gene

Genomic Locations for NARS2 Gene
chr11:78,435,961-78,574,874
(GRCh38/hg38)
Size:
138,914 bases
Orientation:
Minus strand
chr11:78,147,007-78,285,919
(GRCh37/hg19)
Size:
138,913 bases
Orientation:
Minus strand

Genomic View for NARS2 Gene

Genes around NARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NARS2 Gene

Proteins for NARS2 Gene

  • Protein details for NARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I59-SYNM_HUMAN
    Recommended name:
    Probable asparagine--tRNA ligase, mitochondrial
    Protein Accession:
    Q96I59
    Secondary Accessions:
    • G3V178

    Protein attributes for NARS2 Gene

    Size:
    477 amino acids
    Molecular mass:
    54090 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for NARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NARS2 Gene

Selected DME Specific Peptides for NARS2 Gene

Q96I59:
  • LTVSGQL
  • TFGPTFRAE
  • PIITSND
  • YTEAVEIL
  • WYLDLRR
  • PTFRAENS

Post-translational modifications for NARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NARS2 Gene

Gene Families for NARS2 Gene

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

Protein Domains for NARS2 Gene

Blocks:
  • Aspartyl-tRNA synthetase signature
  • tRNA synthetase, class II (D, K and N)
  • OB-fold nucleic acid binding domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NARS2 Gene

GenScript: Design optimal peptide antigens:
  • Asparagine--tRNA ligase (SYNM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96I59

UniProtKB/Swiss-Prot:

SYNM_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 NARS2: view

Function for NARS2 Gene

Molecular function for NARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + H(+) + L-asparaginyl-tRNA(Asn); Xref=Rhea:RHEA:11180, Rhea:RHEA-COMP:9659, Rhea:RHEA-COMP:9674, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58048, ChEBI:CHEBI:78442, ChEBI:CHEBI:78515, ChEBI:CHEBI:456215; EC=6.1.1.22;.

Enzyme Numbers (IUBMB) for NARS2 Gene

Phenotypes From GWAS Catalog for NARS2 Gene

Gene Ontology (GO) - Molecular Function for NARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004816 asparagine-tRNA ligase activity ISS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with NARS2: view
genes like me logo Genes that share phenotypes with NARS2: view

Human Phenotype Ontology for NARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NARS2

CRISPR Products

miRNA for NARS2 Gene

miRTarBase miRNAs that target NARS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NARS2

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NARS2 Gene

Localization for NARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NARS2 Gene

Mitochondrion matrix. Mitochondrion.

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 NARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NARS2: view

Pathways & Interactions for NARS2 Gene

genes like me logo Genes that share pathways with NARS2: view

Pathways by source for NARS2 Gene

1 BioSystems pathway for NARS2 Gene
1 KEGG pathway for NARS2 Gene

Gene Ontology (GO) - Biological Process for NARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0006421 asparaginyl-tRNA aminoacylation ISS --
genes like me logo Genes that share ontologies with NARS2: view

No data available for SIGNOR curated interactions for NARS2 Gene

Drugs & Compounds for NARS2 Gene

(4) Drugs for NARS2 Gene - From: DrugBank and HMDB

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

(1) Additional Compounds for NARS2 Gene - From: 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 NARS2: view

Transcripts for NARS2 Gene

mRNA/cDNA for NARS2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NARS2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NARS2 Gene

No ASD Table

Relevant External Links for NARS2 Gene

GeneLoc Exon Structure for
NARS2

Expression for NARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NARS2 Gene

Protein differential expression in normal tissues from HIPED for NARS2 Gene

This gene is overexpressed in Adrenal (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NARS2 Gene



Protein tissue co-expression partners for NARS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NARS2

SOURCE GeneReport for Unigene cluster for NARS2 Gene:

Hs.503389

Evidence on tissue expression from TISSUES for NARS2 Gene

  • Nervous system(4.5)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NARS2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • face
  • head
  • skull
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with NARS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NARS2 Gene

Orthologs for NARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NARS2 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NARS2 30
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia NARS2 31 30
  • 89.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nars2 17 31 30
  • 85.19 (n)
rat
(Rattus norvegicus)
Mammalia Nars2 30
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia NARS2 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NARS2 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NARS2 31 30
  • 72.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NARS2 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nars2 30
  • 68.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31151 30
zebrafish
(Danio rerio)
Actinopterygii nars2 31 30
  • 65.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001276 30
  • 50.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6796 31 30
  • 49.3 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nars-2 31
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLM5 33 31 30
  • 48.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11484g 30
  • 47.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL054C 30
  • 46.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NS1 30
  • 54.88 (n)
soybean
(Glycine max)
eudicotyledons Gma.3210 30
rice
(Oryza sativa)
Liliopsida Os07g0485400 30
  • 54.95 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes slm5 30
  • 51.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06866 30
  • 48.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2995 31
  • 41 (a)
OneToOne
Species where no ortholog for NARS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NARS2 Gene

ENSEMBL:
Gene Tree for NARS2 (if available)
TreeFam:
Gene Tree for NARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NARS2: view image

Paralogs for NARS2 Gene

Paralogs for NARS2 Gene

(3) SIMAP similar genes for NARS2 Gene using alignment to 5 proteins:

  • SYNM_HUMAN
  • E9PRK2_HUMAN
  • G3V178_HUMAN
  • H0YE96_HUMAN
  • H0YEL9_HUMAN
genes like me logo Genes that share paralogs with NARS2: view

Variants for NARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NARS2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
667622 Benign: not provided 78,571,671(-) G/A INTRON_VARIANT
667638 Benign: not provided 78,493,360(-) C/T INTRON_VARIANT
671521 Benign: not provided 78,466,278(-) C/A INTRON_VARIANT
672532 Benign: not provided 78,493,392(-) G/A INTRON_VARIANT
672533 Benign: not provided 78,466,095(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NARS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NARS2 Gene

Variant ID Type Subtype PubMed ID
dgv211e214 CNV gain 21293372
esv2662654 CNV deletion 23128226
esv3579755 CNV loss 25503493
esv3626901 CNV loss 21293372
esv3626904 CNV gain 21293372
esv3892027 CNV gain 25118596
nsv1147651 CNV insertion 26484159
nsv468642 CNV gain 19166990
nsv516040 CNV loss 19592680
nsv555454 CNV gain 21841781

Variation tolerance for NARS2 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NARS2 Gene

Human Gene Mutation Database (HGMD)
NARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NARS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NARS2 Gene

Disorders for NARS2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NARS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYNM_HUMAN
  • Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239]: An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269 PubMed:25385316, ECO:0000269 PubMed:25629079, ECO:0000269 PubMed:25807530}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 94 (DFNB94) [MIM:618434]: A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:25807530}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NARS2

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 NARS2: view

No data available for Genatlas for NARS2 Gene

Publications for NARS2 Gene

  1. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. (PMID: 25807530) Simon M … Riazuddin S (PLoS genetics 2015) 2 3 4 54
  2. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L … Sissler M (Biochemistry 2005) 2 3 4 54
  3. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. (PMID: 25629079) Sofou K … Asin-Cayuela J (Molecular genetics & genomic medicine 2015) 3 4 54
  4. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). (PMID: 25385316) Vanlander AV … Van Coster R (Human mutation 2015) 3 4 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for NARS2 Gene

Sources for NARS2 Gene