| Type | Description |
|---|---|
| Definition | tyrosyl-tRNA synthetase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-18 10:42:00 | findings provide molecular-level insights into the pathophysiology of maternally transmitted deafness arising from the synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations | 31685661 |
| 2019-10-26 12:46:00 | Data suggest that biallelic tyrosyl-tRNA synthetase 2 (YARS2) variants, including severe loss-of-function alleles should be considered as a cause of isolated congenital sideroblastic anemia, as well as the myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2) syndromic phenotype. | 30026338 |
| 2019-10-26 12:20:00 | tyrosyl-tRNA synthetase 2 tyrosine | 29976739 |
| 2017-07-22 11:27:00 | The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation in mitochondrial myopathy. | 28395030 |
| 2016-12-17 10:09:00 | The mutation in YARS2 gene is a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. | 26647310 |
| Type | IDs |
|---|---|
| Synonymous | CGI-04, MLASA2, MT-TYRRS, TYRRS |
| Gene |
UniProtKB-ID:
SYYM_HUMAN
UniprotKB:
Q9Y2Z4
UniParc:
UPI0000046058
EMBL:
BC015625,
AF132939,
AK024057,
CH471116,
AC087588
Ensembl:
ENSG00000139131
KO:
hsa:51067
|
| Nucleutide sequences |
EMBL-CDS:
EAW88518.1,
EAW88517.1,
BAB14806.1,
AAH15625.1,
AAD27714.1
Gene_ORFName:
CGI-04
Ensembl_TRS:
ENST00000324868
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000320658
RefSeq:
NP_001035526.1
|
| Others |
UniRef100:
UniRef100_Q9Y2Z4
UniRef90:
UniRef90_Q9Y2Z4
UniRef50:
UniRef50_Q9Y2Z4
UniGene:
Hs.505231,
Hs.706015
CCDS:
CCDS31770.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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