YARS2 tyrosyl-tRNA synthetase 2
Gene ID: 51067, updated on 28-Oct-2024Gene type: protein coding
Also known as: TYRRS; CGI-04; MLASA2; MT-TYRRS
- See all available tests in GTR for this gene
- Go to complete Gene record for YARS2
- Go to Variation Viewer for YARS2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | See labs |
Genomic context
- Location:
- 12p11.21
- Sequence:
- Chromosome: 12; NC_000012.12 (32746544..32755897, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for YARS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- YARS2 database
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