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NARS2 asparaginyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 79731, updated on 27-Nov-2024

Summary

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Official Symbol
NARS2provided by HGNC
Official Full Name
asparaginyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:26274
See related
Ensembl:ENSG00000137513 MIM:612803; AllianceGenome:HGNC:26274
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLM5; asnRS; DFNB94
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 4.7), thyroid (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

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See NARS2 in Genome Data Viewer
Location:
11q14.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78435968..78574864, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78369261..78508161, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (78147014..78285909, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene GRB2 associated binding protein 2 Neighboring gene zinc finger protein 75C, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5321 Neighboring gene Sharpr-MPRA regulatory region 74 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:78127852-78128606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5322 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:78137590-78137755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5323 Neighboring gene long intergenic non-protein coding RNA 2728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5325 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:78178372-78178539 Neighboring gene uncharacterized LOC105369403 Neighboring gene Sharpr-MPRA regulatory region 10369 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:78219454-78219651 Neighboring gene uncharacterized LOC101928896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5328 Neighboring gene RNA, U6 small nuclear 311, pseudogene Neighboring gene COP9 signalosome subunit 8 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. Ait-El-Mkadem Saadi S, et al. Eur J Med Genet, 2022 Dec. PMID 36252909
  2. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Vanlander AV, et al. Hum Mutat, 2015 Feb. PMID 25385316
  3. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. Yang N, et al. BMC Pediatr, 2024 Feb 3. PMID 38310242, Free PMC Article
  4. The phenotypic variability and natural history of NARS2 associated disease. Sofou K, et al. Eur J Paediatr Neurol, 2021 Mar. PMID 33596490
  5. Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. Bruwer Z, et al. J Perinat Med, 2018 Nov 27. PMID 28822227

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
    Title: Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
  2. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
    Title: Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
  3. The phenotypic variability and natural history of NARS2 associated disease.
    Title: The phenotypic variability and natural history of NARS2 associated disease.
  4. The AARS2 variant accounts for a significant number of cases with Non-immune Hydrops Fetalis in the cohort of pregnancies Omani patients.
    Title: Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
  5. NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115.
    Title: Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues.
  6. The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type.
    Title: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
  7. Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05.
    Title: Genetic Determinants of Survival in Patientswith Alzheimer’s Disease.
  8. In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2
    Title: Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
  9. A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases.
    Title: Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation defect type 24
MedGen: C4015643 OMIM: 616239 GeneReviews: Not available
Compare labs
Hearing loss, autosomal recessive 94
MedGen: C5193096 OMIM: 618434 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA is identified to have a physical interaction with asparaginyl-tRNA synthetase 2, mitochondrial (NARS2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables asparagine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables asparagine-tRNA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in asparaginyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in asparaginyl-tRNA aminoacylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
asparaginyl-tRNA synthetase
Names
asparagine tRNA ligase 2, mitochondrial (putative)
asparagine--tRNA ligase, mitochondrial
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
deafness, autosomal recessive 94
probable asparagine--tRNA ligase, mitochondrial
probable asparaginyl-tRNA synthetase, mitochondrial
NP_001230180.1
NP_001412228.1
NP_001412229.1
NP_001412230.1
NP_001412231.1
NP_001412232.1
NP_001412233.1
NP_001412234.1
NP_001412235.1
NP_001412236.1
NP_001412237.1
NP_001412238.1
NP_001412239.1
NP_001412240.1
NP_001412241.1
NP_001412242.1
NP_001412243.1
NP_078954.4
XP_016873791.1
XP_047283547.1
XP_047283549.1
XP_047283551.1
XP_054225925.1
XP_054225927.1
XP_054225929.1
XP_054225930.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042046.1 RefSeqGene

    Range
    5001..143897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243251.2 → NP_001230180.1  asparaginyl-tRNA synthetase isoform 2

    See identical proteins and their annotated locations for NP_001230180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK027094, AK056980, AP003110, AW968557, BP196275, DB565980
    Consensus CDS
    CCDS58164.1
    UniProtKB/TrEMBL
    B2RD66, Q9H5H1
    Related
    ENSP00000511817.1, ENST00000695342.1
    Conserved Domains (1) summary
    cl00268
    Location:1 → 246
    class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

  2. NM_001425299.1 → NP_001412228.1  asparaginyl-tRNA synthetase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENSP00000511835.1, ENST00000695360.1

  3. NM_001425300.1 → NP_001412229.1  asparaginyl-tRNA synthetase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  4. NM_001425301.1 → NP_001412230.1  asparaginyl-tRNA synthetase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENSP00000511826.1, ENST00000695351.1

  5. NM_001425302.1 → NP_001412231.1  asparaginyl-tRNA synthetase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  6. NM_001425303.1 → NP_001412232.1  asparaginyl-tRNA synthetase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    UniProtKB/TrEMBL
    A0A8Q3SHL5
    Related
    ENSP00000511819.1, ENST00000695344.1

  7. NM_001425304.1 → NP_001412233.1  asparaginyl-tRNA synthetase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  8. NM_001425305.1 → NP_001412234.1  asparaginyl-tRNA synthetase isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    UniProtKB/TrEMBL
    A0A8Q3WKF4
    Related
    ENSP00000511824.1, ENST00000695349.1

  9. NM_001425306.1 → NP_001412235.1  asparaginyl-tRNA synthetase isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENSP00000511832.1, ENST00000695357.1

  10. NM_001425307.1 → NP_001412236.1  asparaginyl-tRNA synthetase isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  11. NM_001425308.1 → NP_001412237.1  asparaginyl-tRNA synthetase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  12. NM_001425309.1 → NP_001412238.1  asparaginyl-tRNA synthetase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  13. NM_001425310.1 → NP_001412239.1  asparaginyl-tRNA synthetase isoform 14

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  14. NM_001425311.1 → NP_001412240.1  asparaginyl-tRNA synthetase isoform 15

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  15. NM_001425312.1 → NP_001412241.1  asparaginyl-tRNA synthetase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110

  16. NM_001425313.1 → NP_001412242.1  asparaginyl-tRNA synthetase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENSP00000511818.1, ENST00000695343.1

  17. NM_001425314.1 → NP_001412243.1  asparaginyl-tRNA synthetase isoform 16

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    UniProtKB/TrEMBL
    H0YE96
    Related
    ENSP00000435298.2, ENST00000529771.2

  18. NM_024678.6 → NP_078954.4  asparaginyl-tRNA synthetase isoform 1 precursor

    See identical proteins and their annotated locations for NP_078954.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW968557, BC007800, BP199309, DB565980
    Consensus CDS
    CCDS8261.1
    UniProtKB/Swiss-Prot
    G3V178, Q96I59
    UniProtKB/TrEMBL
    B3KPX5
    Related
    ENSP00000281038.5, ENST00000281038.10
    Conserved Domains (1) summary
    PRK03932
    Location:27 → 474
    asnC; asparaginyl-tRNA synthetase; Validated

RNA

  1. NR_189154.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENST00000695355.1

  2. NR_189155.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENST00000695352.1

  3. NR_189156.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENST00000695347.1

  4. NR_189157.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003086, AP003110
    Related
    ENST00000695345.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    78435968..78574864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427593.1 → XP_047283549.1  asparaginyl-tRNA synthetase isoform X2

    UniProtKB/TrEMBL
    A0A8Q3SHT7

  2. XM_047427591.1 → XP_047283547.1  asparaginyl-tRNA synthetase isoform X2

    UniProtKB/TrEMBL
    A0A8Q3SHT7
    Related
    ENSP00000511829.1, ENST00000695354.1

  3. XM_047427595.1 → XP_047283551.1  asparaginyl-tRNA synthetase isoform X4

  4. XM_017018302.3 → XP_016873791.1  asparaginyl-tRNA synthetase isoform X5

    UniProtKB/TrEMBL
    A0A8Q3WLI0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    78369261..78508161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369952.1 → XP_054225927.1  asparaginyl-tRNA synthetase isoform X2

  2. XM_054369950.1 → XP_054225925.1  asparaginyl-tRNA synthetase isoform X2

  3. XM_054369954.1 → XP_054225929.1  asparaginyl-tRNA synthetase isoform X4

  4. XM_054369955.1 → XP_054225930.1  asparaginyl-tRNA synthetase isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96I59.3 GenPept UniProtKB/Swiss-Prot:Q96I59

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