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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
  • Tyrosine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.1 4 56
  • TYRRS 3 4
  • Tyrosine--TRNA Ligase, Mitochondrial 3
  • Tyrosyl-TRNA Synthetase 4
  • 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 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include 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).

Additional gene information for YARS2 Gene

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

Genomics for YARS2 Gene

GeneHancer (GH) Regulatory Elements for YARS2 Gene

Promoters and enhancers for YARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I032753 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.4 423 3.4 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YARS2 H3F3C KIAA1551 DNM1L GC12M032745 PIR46706
GH12I032677 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.4 +76.3 76325 3.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 DNM1L BICD1 YARS2 H3F3C ENSG00000257643
GH12I032104 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.6 +649.1 649115 5 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS KLF13 SP3 BICD1 ENSG00000257530 LOC100420981 YARS2 SINHCAF ENSG00000277342
GH12I032016 Enhancer 0.8 ENCODE 20.7 +738.8 738758 2.2 ZNF529 ZFP64 MZF1 ZEB1 ZNF213 ZNF138 ZNF366 ZNF202 ZNF654 ZNF680 DDX11 LOC100420981 DDX11-AS1 SINHCAF DNM1L BICD1 YARS2 FLJ13224 KIAA1551 AMN1
GH12I031889 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.6 +865.1 865069 1.9 ZNF202 PKNOX1 HLF ZFP64 ZNF140 ELF1 ZBTB8A ATF2 ZNF781 ZNF518A DDX11-AS1 DDX11 LOC100420981 BICD1 DNM1L YARS2 KIAA1551 SINHCAF LINC02422 ENSG00000256465
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around YARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the YARS2 gene promoter:

Genomic Locations for YARS2 Gene

Genomic Locations for YARS2 Gene
chr12:32,725,091-32,755,961
(GRCh38/hg38)
Size:
30,871 bases
Orientation:
Minus strand
chr12:32,880,424-32,908,887
(GRCh37/hg19)

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

Selected DME Specific Peptides for YARS2 Gene

Q9Y2Z4:
  • ALVGGAT
  • GFDPTADSLH
  • DSLHVGH
  • GKSAGNA
  • QAYDFYYL
  • GKRNFYI
  • TSPFELYQ
  • YCGFDPT
  • SLHVGHL

Post-translational modifications for YARS2 Gene

No Post-translational modifications

Other Protein References for YARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for YARS2 Gene

Gene Families for YARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog for YARS2 Gene

Gene Ontology (GO) - Molecular Function for YARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding TAS 15779907
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IDA,HDA 22681889
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004831 tyrosine-tRNA ligase activity TAS,IEA --
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

CRISPR Products

Inhibitory RNA Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS 15779907
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with YARS2: view

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:0006412 translation NAS,IEA 10810093
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006437 tyrosyl-tRNA aminoacylation IEA --
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, Investigational Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for YARS2 Gene



Protein tissue co-expression partners for YARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of YARS2 Gene:

YARS2

SOURCE GeneReport for Unigene cluster for YARS2 Gene:

Hs.505231

Evidence on tissue expression from TISSUES for YARS2 Gene

  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for YARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • liver
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with YARS2: view

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
chimpanzee
(Pan troglodytes)
Mammalia YARS2 33 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia YARS2 33 34
  • 88.33 (n)
dog
(Canis familiaris)
Mammalia YARS2 33 34
  • 86.09 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Yars2 33 16 34
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Yars2 33
  • 83.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia YARS2 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves YARS2 33 34
  • 70.62 (n)
lizard
(Anolis carolinensis)
Reptilia YARS2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia yars2 33
  • 64.8 (n)
Str.8179 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14420 33
zebrafish
(Danio rerio)
Actinopterygii yars2 33 34 34
  • 61.38 (n)
wufi41d10 33
African malaria mosquito
(Anopheles gambiae)
Insecta TTRNA1 33
  • 53.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16912 33 34
  • 53.54 (n)
worm
(Caenorhabditis elegans)
Secernentea yars-1 33 34
  • 47.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24267g 33
  • 48.86 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR192W 33
  • 47.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSY1 33 34 36
  • 46.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2768 33
  • 48.88 (n)
rice
(Oryza sativa)
Liliopsida Os01g0500900 33
  • 49.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03030 33
  • 51.39 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC576.06c 33
  • 46.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for YARS2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1020670 likely-benign, benign, Mitochondrial myopathy and sideroblastic anemia, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy 32,743,681(-) C/G genic_downstream_transcript_variant, intron_variant
rs1057518694 likely-pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 1 32,731,069(-) G/A genic_downstream_transcript_variant, intron_variant
rs1059422 likely-benign, benign, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy, Mitochondrial myopathy and sideroblastic anemia 32,743,431(-) G/C genic_downstream_transcript_variant, intron_variant
rs10844336 benign, likely-benign, Lethal Encephalopathy, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Mitochondrial myopathy and sideroblastic anemia 32,744,652(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs10844337 likely-benign, benign, Mitochondrial myopathy and sideroblastic anemia, Lethal Encephalopathy, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 32,746,995(-) C/G 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for YARS2 Gene

Variant ID Type Subtype PubMed ID
dgv1429n100 CNV gain 25217958

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)

Additional Variant Information for YARS2 Gene

Human Gene Mutation Database (HGMD)
YARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
YARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YARS2 Gene

Disorders for YARS2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for YARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for YARS2

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

No data available for Genatlas for YARS2 Gene

Publications for YARS2 Gene

  1. Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features. (PMID: 17997975) Bonnefond L … Rudinger-Thirion J (Structure (London, England : 1993) 2007) 3 4 22 58
  2. 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 58
  3. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (PMID: 22504945) Sasarman F … Shoubridge EA (Human mutation 2012) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. (PMID: 20598274) Riley LG … Christodoulou J (American journal of human genetics 2010) 3 4 58

Products for YARS2 Gene

Sources for YARS2 Gene

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