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Aliases for NARS2 Gene

Aliases for NARS2 Gene

  • Asparaginyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • EC 6.1.1.22 4 63
  • AsnRS 3 4
  • Probable Asparaginyl-TRNA Synthetase, Mitochondrial 3
  • Asparagine TRNA Ligase 2, Mitochondrial (Putative) 3
  • Probable Asparagine--TRNA Ligase, Mitochondrial 3
  • Asparaginyl-TRNA Synthetase 4
  • Mitochondrial (Putative) 2
  • Asparagine TRNA Ligase 2 2
  • EC 6.1.1 63
  • SLM5 3

External Ids for NARS2 Gene

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 inclusion conjunctivitis. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleic acid binding and asparagine-tRNA ligase activity.

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

Genomics for NARS2 Gene

Genomic Location for NARS2 Gene

Start:
78,435,961 bp from pter
End:
78,574,874 bp from pter
Size:
138,914 bases
Orientation:
Minus strand

Genomic View for NARS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NARS2 Gene

Regulatory Elements 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:
    No Data Available

    Alternative splice isoforms for NARS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NARS2 Gene

Proteomics data for NARS2 Gene at MOPED

Selected DME Specific Peptides for NARS2 Gene

Post-translational modifications for NARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NARS2 Gene

Domains for NARS2 Gene

Gene Families for NARS2 Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

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
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.:
    • Q96I59
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

Gene Ontology (GO) - Molecular Function for NARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003676 nucleic acid binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004816 asparagine-tRNA ligase activity ISS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NARS2: view

Phenotypes for NARS2 Gene

GenomeRNAi human phenotypes for NARS2:
genes like me logo Genes that share phenotypes with NARS2: view

miRNA for NARS2 Gene

miRTarBase miRNAs that target NARS2

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

Localization for NARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NARS2 Gene COMPARTMENTS Subcellular localization image for NARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with NARS2: view

Pathways for NARS2 Gene

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

Pathways by source 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:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006421 asparaginyl-tRNA aminoacylation ISS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with NARS2: view

Compounds for NARS2 Gene

(5) HMDB Compounds for NARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Asparagine
  • (-)-Asparagine
70-47-3
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for NARS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Asparagine
  • (-)-Asparagine
70-47-3 target
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:

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 for NARS2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NARS2 Gene

SOURCE GeneReport for Unigene cluster for NARS2 Gene Hs.503389

genes like me logo Genes that share expressions 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 35
  • 99.51 (n)
  • 99.16 (a)
NARS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NARS2 35
  • 89.59 (n)
  • 87.21 (a)
NARS2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NARS2 35
  • 89.66 (n)
  • 88.26 (a)
mouse
(Mus musculus)
Mammalia Nars2 35
  • 85.19 (n)
  • 84.49 (a)
Nars2 16
Nars2 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NARS2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NARS2 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nars2 35
  • 83.8 (n)
  • 82.86 (a)
chicken
(Gallus gallus)
Aves NARS2 35
  • 72.76 (n)
  • 76.05 (a)
NARS2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NARS2 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.31151 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nars2 35
  • 68.06 (n)
  • 69.76 (a)
zebrafish
(Danio rerio)
Actinopterygii nars2 35
  • 65.71 (n)
  • 68.81 (a)
nars2 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001276 35
  • 50.66 (n)
  • 42.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6796 35
  • 49.3 (n)
  • 41.59 (a)
CG6796 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nars-2 36
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL054C 35
  • 46.73 (n)
  • 39.07 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLM5 35
  • 48.51 (n)
  • 40.61 (a)
SLM5 36
  • 36 (a)
OneToOne
SLM5 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11484g 35
  • 47.87 (n)
  • 38.58 (a)
soybean
(Glycine max)
eudicotyledons Gma.3210 35
thale cress
(Arabidopsis thaliana)
eudicotyledons NS1 35
  • 54.88 (n)
  • 50.7 (a)
rice
(Oryza sativa)
Liliopsida Os07g0485400 35
  • 54.95 (n)
  • 48.86 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06866 35
  • 48.43 (n)
  • 41.26 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes slm5 35
  • 51.97 (n)
  • 46.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2995 36
  • 41 (a)
OneToOne
Species with no ortholog for NARS2:
  • 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

Selected 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 MAF
rs908003 -- 78,479,294(+) AGAAC(A/T)TATTC intron-variant
rs952605 -- 78,489,381(+) cacaa(A/T)gagat intron-variant
rs966456 -- 78,457,557(+) GCTAA(A/T)GTAAC intron-variant
rs1022268 -- 78,435,497(-) TATGA(A/G)AGTGA downstream-variant-500B
rs1022269 -- 78,435,491(-) AGTGA(A/G)AAAAG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv516040 CNV Loss 19592680
esv2662654 CNV Deletion 23128226
dgv1226n71 CNV Gain 21882294
nsv468642 CNV Gain 19166990
dgv1227n71 CNV Gain 21882294

Relevant External Links for NARS2 Gene

HapMap Linkage Disequilibrium report
NARS2
Human Gene Mutation Database (HGMD)
NARS2

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

Disorders for NARS2 Gene

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.

(1) MalaCards Diseases for NARS2 Gene

Search for NARS2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for NARS2 Gene

Relevant External Links for NARS2

Genetic Association Database (GAD)
NARS2
Human Genome Epidemiology (HuGE) Navigator
NARS2
genes like me logo Genes that share disorders with NARS2: view

Publications for NARS2 Gene

  1. 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
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). (PMID: 25385316) Vanlander A.V. … Van Coster R. (Hum. Mutat. 2015) 3 4
  5. 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. (Mol Genet Genomic Med 2015) 3 4

Products for NARS2 Gene

Sources for NARS2 Gene

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