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

Gene ID: 51067, updated on 5-Aug-2018

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; Vega:OTTHUMG00000169454
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

Genomic context

See YARS2 in Genome Data Viewer
Location:
12p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (32725247..32756458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32878195..32908895, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BICD cargo adaptor 1 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like Neighboring gene plakophilin 2 Neighboring gene ribosomal protein L35a pseudogene 27 Neighboring gene argininosuccinate synthetase 1 pseudogene 14

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13995

Gene Ontology Provided by GOA

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

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
    5001..14410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040436.2NP_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
    Q9Y2Z4
    Related
    ENSP00000320658.8, OTTHUMP00000241174, ENST00000324868.12, OTTHUMT00000404153
    Conserved Domains (1) summary
    cl28425
    Location:43474
    TyrS; Tyrosyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    32725247..32756458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_242892.5 RNA Sequence

  2. XR_001748730.2 RNA Sequence

  3. XR_002957331.1 RNA Sequence

  4. XR_931296.3 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.
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