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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]
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 tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | TAS | 15779907 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO:0004831 | tyrosine-tRNA ligase activity | IEA,NAS | 10810093 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | TAS | 15779907 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | IBA | 21873635 |
GO:0016604 | nuclear body | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA,NAS | 10810093 |
GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
GO:0006437 | tyrosyl-tRNA aminoacylation | IEA | -- |
GO:0043039 | tRNA aminoacylation | IBA,IDA | 15779907 |
GO:0070184 | mitochondrial tyrosyl-tRNA aminoacylation | IMP | 20598274 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | YARS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | YARS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | YARS2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Yars2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Yars2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | YARS2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | YARS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | YARS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | yars2 30 |
|
||
Str.8179 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14420 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | yars2 30 31 31 |
|
OneToMany | |
wufi41d10 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | TTRNA1 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG16912 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | yars-1 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E24267g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR192W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSY1 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | emb2768 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0500900 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03030 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC576.06c 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
860463 | Uncertain Significance: not provided | 32,737,917(-) |
C/T NM_012062.5(DNM1L):c.1649C>T (p.Ala550Val) |
MISSENSE_VARIANT,INTRON | |
883194 | Uncertain Significance: Myopathy, lactic acidosis, and sideroblastic anemia 2 | 32,746,609(-) |
C/T NM_001040436.3(YARS2):c.*595G>A |
THREE_PRIME_UTR | |
883195 | Uncertain Significance: Myopathy, lactic acidosis, and sideroblastic anemia 2 | 32,746,726(-) |
C/T NM_001040436.3(YARS2):c.*478G>A |
THREE_PRIME_UTR | |
883196 | Likely Benign: Myopathy, lactic acidosis, and sideroblastic anemia 2 | 32,746,735(-) |
G/A NM_001040436.3(YARS2):c.*469C>T |
THREE_PRIME_UTR | |
883197 | Uncertain Significance: Myopathy, lactic acidosis, and sideroblastic anemia 2 | 32,746,827(-) |
C/T NM_001040436.3(YARS2):c.*377G>A |
THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1429n100 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, lactic acidosis, and sideroblastic anemia 2 |
|
|
myopathy, lactic acidosis, and sideroblastic anemia 1 |
|
|
mitochondrial disorders |
|
|
sideroblastic anemia |
|
|
myopathy, lactic acidosis, and sideroblastic anemia |
|
|