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Aliases for NARS2 Gene

Aliases for NARS2 Gene

  • Asparaginyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3 5
  • Asparagine TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • Deafness, Autosomal Recessive 94 2 3
  • EC 6.1.1.22 4 58
  • ASNRS 3 4
  • Probable Asparaginyl-TRNA Synthetase, Mitochondrial 3
  • Probable Asparagine--TRNA Ligase, Mitochondrial 3
  • Asparaginyl-TRNA Synthetase 4
  • EC 6.1.1 58
  • 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 (Putative)) is a Protein Coding gene. Diseases associated with NARS2 include Combined Oxidative Phosphorylation Deficiency 24 and Leigh Syndrome. Among its related pathways are Ectoderm Differentiation and tRNA Aminoacylation. GO annotations related to this gene include nucleic acid binding and aminoacyl-tRNA ligase activity.

Additional gene information for NARS2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NARS2 Gene

Genomics for NARS2 Gene

Regulatory Elements for NARS2 Gene

Enhancers for NARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H078573 1 ENCODE 38.6 +0.1 68 2.5 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF2 YY1 ETS1 NARS2 AAMDC LOC101928896
GH11H078560 1 Ensembl ENCODE 38.5 +13.2 13174 3.2 SOX13 FOXA2 JUN BATF RAD21 EED HNF4G FOS ETV6 RUNX3 NARS2 LOC101928896
GH11H078564 1 Ensembl ENCODE 29.8 +10.4 10373 0.6 CTCF TFAP4 MXI1 FOXA2 MAX RAD21 RFX5 ZNF121 SMC3 ZNF143 NARS2 LOC101928896
GH11H078423 1.5 Ensembl ENCODE dbSUPER 15.8 +148.6 148631 4.9 ATF1 ARNT TCF12 GATA2 FOS ATF7 RUNX3 CAVIN1 JUNB ZNF592 NARS2 ENSG00000254649 LOC101928865 GAB2
GH11H078415 1.8 FANTOM5 ENCODE dbSUPER 11.9 +156.7 156677 6.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 GAB2 NARS2 ENSG00000254649 KCTD21-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NARS2 on UCSC Golden Path with GeneCards custom track

Promoters for NARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042601 174 2201 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF2 YY1 GLIS2

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)

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

Suggested Antigen Peptide Sequences for NARS2 Gene

GenScript: Design optimal peptide antigens:

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:
ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + L-asparaginyl-tRNA(Asn).

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

miRNA for NARS2 Gene

miRTarBase miRNAs that target NARS2

Inhibitory RNA 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
nucleus 5
cytosol 5

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:0005737 cytoplasm IEA --
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
L-Asparagine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with NARS2: view

Transcripts for NARS2 Gene

Unigene Clusters for NARS2 Gene

Asparaginyl-tRNA synthetase 2, mitochondrial (putative):
Representative Sequences:

Inhibitory RNA 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
ECgene alternative splicing isoforms for
NARS2

Expression for NARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NARS2 Gene



Protein tissue co-expression partners for NARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NARS2 Gene:

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(4.2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NARS2 33
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia NARS2 34 33
  • 89.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nars2 16 34 33
  • 85.19 (n)
rat
(Rattus norvegicus)
Mammalia Nars2 33
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia NARS2 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NARS2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NARS2 34 33
  • 72.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NARS2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nars2 33
  • 68.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31151 33
zebrafish
(Danio rerio)
Actinopterygii nars2 33 34
  • 65.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001276 33
  • 50.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6796 33 34
  • 49.3 (n)
worm
(Caenorhabditis elegans)
Secernentea nars-2 34
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLM5 33 34 36
  • 48.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11484g 33
  • 47.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL054C 33
  • 46.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NS1 33
  • 54.88 (n)
soybean
(Glycine max)
eudicotyledons Gma.3210 33
rice
(Oryza sativa)
Liliopsida Os07g0485400 33
  • 54.95 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes slm5 33
  • 51.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06866 33
  • 48.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2995 34
  • 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)

Paralogs for NARS2 Gene

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

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

No data available for Paralogs for NARS2 Gene

Variants for NARS2 Gene

Sequence variations from dbSNP and Humsavar for NARS2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs730882155 Pathogenic, Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239] 78,528,890(-) TGTTC(C/T)TGCTT nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_073724 Leigh syndrome (LS) [MIM:256000]
rs730882154 Pathogenic 78,493,063(-) ATGCA(C/G)GTAGG intron-variant, nc-transcript-variant, reference, missense
rs886041483 Pathogenic 78,493,061(-) GCAGG(G/T)AGGTA intron-variant, splice-donor-variant
rs146900529 Uncertain significance 78,478,662(+) TGTAG(C/G/T)CTTGA intron-variant, nc-transcript-variant, reference, missense

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

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

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)

Relevant External Links for NARS2 Gene

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

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

Disorders for NARS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NARS2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 24
  • nars2
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
dysphagia
  • deglutition disorders
nonsyndromic deafness
  • nonsyndromic hearing loss
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:25807530}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for NARS2

Genetic Association Database (GAD)
NARS2
Human Genome Epidemiology (HuGE) Navigator
NARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NARS2
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 60
  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 60
  3. 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 60
  4. 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 60
  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 45 60

Products for NARS2 Gene

Sources for NARS2 Gene

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