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

    Gene ID: 51067, updated on 19-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001040436.3NP_001035526.1  tyrosine--tRNA ligase, mitochondrial precursor

      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:43474
      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.