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YARS2 tyrosyl-tRNA synthetase 2 [ Homo sapiens (human) ]

Gene ID: 51067, updated on 2-Nov-2024

Summary

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Official Symbol
YARS2provided by HGNC
Official Full Name
tyrosyl-tRNA synthetase 2provided by HGNC
Primary source
HGNC:HGNC:24249
See related
Ensembl:ENSG00000139131 MIM:610957; AllianceGenome:HGNC:24249
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
TYRRS; CGI-04; MLASA2; MT-TYRRS
Summary
This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in brain (RPKM 10.0), endometrium (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

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See YARS2 in Genome Data Viewer
Location:
12p11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32746544..32755897, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (32601526..32632178, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32899478..32908831, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902914 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4339 Neighboring gene dynamin 1 like Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32907771-32908410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32908411-32909050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32909051-32909690 Neighboring gene MPRA-validated peak1668 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:32939152-32940351 Neighboring gene plakophilin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32986943-32987472 Neighboring gene MPRA-validated peak1670 silencer Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:33031083-33031607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:33043314-33043814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4341 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:33079663-33080862 Neighboring gene argininosuccinate synthetase 1 pseudogene 14

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 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. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. Sommerville EW, et al. JAMA Neurol, 2017 Jun 1. PMID 28395030, Free PMC Article
  2. Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy. Chen JR, et al. Hum Mol Genet, 2023 Apr 20. PMID 36611011
  3. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Jiang P, et al. Hum Mol Genet, 2016 Feb 1. PMID 26647310
  4. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Riley LG, et al. Orphanet J Rare Dis, 2013 Dec 17. PMID 24344687, Free PMC Article
  5. Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation. Fan W, et al. J Biol Chem, 2019 Dec 13. PMID 31685661, Free PMC Article

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
    Title: Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
  2. Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.
    Title: Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.
  3. findings provide molecular-level insights into the pathophysiology of maternally transmitted deafness arising from the synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations
    Title: Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation.
  4. Data suggest that biallelic tyrosyl-tRNA synthetase 2 (YARS2) variants, including severe loss-of-function alleles should be considered as a cause of isolated congenital sideroblastic anemia, as well as the myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2) syndromic phenotype.
    Title: The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
  5. tyrosyl-tRNA synthetase 2 tyrosine
    Title: Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
  6. The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation in mitochondrial myopathy.
    Title: Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
  7. The mutation in YARS2 gene is a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Title: The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
  8. Data identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, suggesting that the background mtDNA haplotype may be contributing to the phenotypic variability.
    Title: Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
  9. The study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes.
    Title: A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
  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 (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myopathy, lactic acidosis, and sideroblastic anemia 2
MedGen: C3150802 OMIM: 613561 GeneReviews: Not available
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Variation

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See Variation Viewer (GRCh37.p13)

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

  • FLJ13995

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding TAS
Traceable Author Statement
more info
 PubMed 
enables L-tyrosine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables tyrosine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tyrosine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tyrosine-tRNA ligase activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial tyrosyl-tRNA aminoacylation IC
Inferred by Curator
more info
 PubMed 
involved_in mitochondrial tyrosyl-tRNA aminoacylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA aminoacylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IC
Inferred by Curator
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
tyrosine--tRNA ligase, mitochondrial
Names
tyrosine tRNA ligase 2, mitochondrial
tyrosyl-tRNA synthetase 2, mitochondrial
NP_001035526.1

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_028122.1 RefSeqGene

    Range
    5057..14410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040436.3 → NP_001035526.1  tyrosine--tRNA ligase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001035526.1

    Status: REVIEWED

    Source sequence(s)
    AI861961, BC015625, BM979973, DA748673, EB386795
    Consensus CDS
    CCDS31770.1
    UniProtKB/Swiss-Prot
    D3DUW8, Q9H817, Q9Y2Z4
    Related
    ENSP00000320658.8, ENST00000324868.13
    Conserved Domains (1) summary
    cl28425
    Location:43 → 474
    TyrS; Tyrosyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    32746544..32755897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    32601526..32632178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488600.1 RNA Sequence

  2. XR_008488597.1 RNA Sequence

  3. XR_008488598.1 RNA Sequence

  4. XR_008488599.1 RNA Sequence

  5. XR_008488596.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015936.1: Suppressed sequence

    Description
    NM_015936.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2Z4.2 GenPept UniProtKB/Swiss-Prot:Q9Y2Z4

Gene LinkOut

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