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Aliases for YARS2 Gene

Aliases for YARS2 Gene

  • Tyrosyl-TRNA Synthetase 2 2 3 5
  • Tyrosyl-TRNA Synthetase 2, Mitochondrial 2 3
  • EC 6.1.1.1 4 63
  • TYRRS 3 4
  • Tyrosine TRNA Ligase 2, Mitochondrial 3
  • Tyrosyl-TRNA Synthetase 4
  • Tyrosine TRNA Ligase 2 2
  • Mitochondrial 2
  • MT-TYRRS 3
  • CGI-04 3
  • MLASA2 3

External Ids for YARS2 Gene

Previous GeneCards Identifiers for YARS2 Gene

  • GC12M032789
  • GC12M032899
  • GC12M032651
  • GC12M032880

Summaries for YARS2 Gene

Entrez Gene Summary for YARS2 Gene

  • 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]

GeneCards Summary for YARS2 Gene

YARS2 (Tyrosyl-TRNA Synthetase 2) is a Protein Coding gene. Diseases associated with YARS2 include Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 and Mitochondrial Myopathy And Sideroblastic Anemia 1. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include poly(A) RNA binding and nucleotide binding.

UniProtKB/Swiss-Prot for YARS2 Gene

  • Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for YARS2 Gene

Genomics for YARS2 Gene

Regulatory Elements for YARS2 Gene

Enhancers for YARS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around YARS2 on UCSC Golden Path with GeneCards custom track

Promoters for YARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around YARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for YARS2 Gene

Chromosome:
12
Start:
32,725,091 bp from pter
End:
32,755,961 bp from pter
Size:
30,871 bases
Orientation:
Minus strand

Genomic View for YARS2 Gene

Genes around YARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YARS2 Gene

Proteins for YARS2 Gene

  • Protein details for YARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Z4-SYYM_HUMAN
    Recommended name:
    Tyrosine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9Y2Z4
    Secondary Accessions:
    • D3DUW8
    • Q9H817

    Protein attributes for YARS2 Gene

    Size:
    477 amino acids
    Molecular mass:
    53199 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for YARS2 Gene

neXtProt entry for YARS2 Gene

Proteomics data for YARS2 Gene at MOPED

Selected DME Specific Peptides for YARS2 Gene

Post-translational modifications for YARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for YARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for YARS2 Gene

Gene Families for YARS2 Gene

Suggested Antigen Peptide Sequences for YARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2Z4

UniProtKB/Swiss-Prot:

SYYM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with YARS2: view

Function for YARS2 Gene

Molecular function for YARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-tyrosine + tRNA(Tyr) = AMP + diphosphate + L-tyrosyl-tRNA(Tyr).
UniProtKB/Swiss-Prot Function:
Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).

Enzyme Numbers (IUBMB) for YARS2 Gene

Gene Ontology (GO) - Molecular Function for YARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0005524 ATP binding IEA,TAS 15779907
GO:0042803 protein homodimerization activity IPI 15779907
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with YARS2: view
genes like me logo Genes that share phenotypes with YARS2: view

Human Phenotype Ontology for YARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for YARS2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for YARS2 Gene

Localization for YARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for YARS2 Gene COMPARTMENTS Subcellular localization image for YARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for YARS2 Gene

Pathways & Interactions for YARS2 Gene

genes like me logo Genes that share pathways with YARS2: view

Pathways by source for YARS2 Gene

1 KEGG pathway for YARS2 Gene

Gene Ontology (GO) - Biological Process for YARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043039 tRNA aminoacylation IDA 15779907
GO:0070184 mitochondrial tyrosyl-tRNA aminoacylation IMP 20598274
genes like me logo Genes that share ontologies with YARS2: view

No data available for SIGNOR curated interactions for YARS2 Gene

Drugs & Compounds for YARS2 Gene

(5) Drugs for YARS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Tyrosine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for YARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with YARS2: view

Transcripts for YARS2 Gene

mRNA/cDNA for YARS2 Gene

Unigene Clusters for YARS2 Gene

Tyrosyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for YARS2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1:
SP2: -

Relevant External Links for YARS2 Gene

GeneLoc Exon Structure for
YARS2
ECgene alternative splicing isoforms for
YARS2

Expression for YARS2 Gene

mRNA expression in normal human tissues for YARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for YARS2 Gene

This gene is overexpressed in Salivary gland (9.9) and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for YARS2 Gene



SOURCE GeneReport for Unigene cluster for YARS2 Gene Hs.505231

genes like me logo Genes that share expression patterns with YARS2: view

Protein tissue co-expression partners for YARS2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for YARS2 Gene

Orthologs for YARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YARS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia YARS2 35
  • 88.33 (n)
  • 89.31 (a)
YARS2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia YARS2 35
  • 86.09 (n)
  • 87.21 (a)
YARS2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Yars2 35
  • 83.86 (n)
  • 85.77 (a)
Yars2 16
Yars2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia YARS2 35
  • 99.72 (n)
  • 99.58 (a)
YARS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Yars2 35
  • 83.23 (n)
  • 85.14 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia YARS2 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves YARS2 35
  • 70.62 (n)
  • 68.43 (a)
YARS2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia YARS2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8179 35
yars2 35
  • 64.8 (n)
  • 65.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14420 35
zebrafish
(Danio rerio)
Actinopterygii wufi41d10 35
yars2 35
  • 61.38 (n)
  • 60.68 (a)
yars2 36
  • 60 (a)
OneToMany
yars2 36
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta TTRNA1 35
  • 53.8 (n)
  • 51.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16912 35
  • 53.54 (n)
  • 48.67 (a)
CG16912 36
  • 46 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea yars-1 35
  • 47.26 (n)
  • 38.9 (a)
yars-1 36
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR192W 35
  • 47.68 (n)
  • 39.9 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24267g 35
  • 48.86 (n)
  • 40.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSY1 35
  • 46.36 (n)
  • 35.58 (a)
MSY1 36
  • 32 (a)
OneToOne
MSY1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2768 35
  • 48.88 (n)
  • 39.43 (a)
rice
(Oryza sativa)
Liliopsida Os01g0500900 35
  • 49.87 (n)
  • 40.87 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03030 35
  • 51.39 (n)
  • 42.41 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC576.06c 35
  • 46.05 (n)
  • 38.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for YARS2:
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for YARS2 Gene

ENSEMBL:
Gene Tree for YARS2 (if available)
TreeFam:
Gene Tree for YARS2 (if available)

Paralogs for YARS2 Gene

No data available for Paralogs for YARS2 Gene

Variants for YARS2 Gene

Sequence variations from dbSNP and Humsavar for YARS2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11539445 - 32,755,303(-) GGGGG(A/G/T)TCACT nc-transcript-variant, reference, missense
VAR_064188 Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2)
VAR_068646 Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2)
rs10844337 -- 32,746,995(+) TCAAG(C/G)TTTGT intron-variant, utr-variant-3-prime
rs10844338 -- 32,749,300(+) TAAAA(C/T)TGTGA intron-variant

Variation tolerance for YARS2 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for YARS2 Gene

Human Gene Mutation Database (HGMD)
YARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for YARS2 Gene

Disorders for YARS2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for YARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, lactic acidosis, and sideroblastic anemia 2
  • mlasa2
mitochondrial myopathy and sideroblastic anemia 1
  • msa
anemia, sideroblastic, x-linked
  • x-linked sideroblastic anemia
lactic acidosis
  • acidosis lactic
sideroblastic anemia
  • anemia sideroblastic
- elite association - COSMIC cancer census association via MalaCards
Search YARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYYM_HUMAN
  • Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. {ECO:0000269 PubMed:20598274, ECO:0000269 PubMed:22504945}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for YARS2

Genetic Association Database (GAD)
YARS2
Human Genome Epidemiology (HuGE) Navigator
YARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
YARS2
genes like me logo Genes that share disorders with YARS2: view

No data available for Genatlas for YARS2 Gene

Publications for YARS2 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 67
  2. Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features. (PMID: 17997975) Bonnefond L. … Rudinger-Thirion J. (Structure 2007) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Human mitochondrial TyrRS disobeys the tyrosine identity rules. (PMID: 15840810) Bonnefond L. … Rudinger-Thirion J. (RNA 2005) 2 3

Products for YARS2 Gene

Sources for YARS2 Gene

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