| Type | Description |
|---|---|
| Definition | aspartyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 12:01:00 | Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2 | 30352563 |
| 2018-07-21 12:02:00 | Results show that DARS2 is strongly upregulated in hepatocellular carcinoma (HCC) and is associated with HCC progression. DARS2 promotes HCC tumorigenesis by accelerating cell cycle progression and attenuating cell apoptosis. | 29052520 |
| 2016-09-24 12:13:00 | Mutations with mild effects on solubility occur in patients as allelic combinations whereas those with strong effects on solubility or on aminoacylation are necessarily associated with a partially functional allele. | 26620921 |
| 2015-05-09 10:10:00 | This study identified DARS2-associated leukoencephalopathy with hypomyelination with brainstem and spinal cord involvement and leg spasticity. | 25527264 |
| 2014-05-24 11:20:00 | 60 different DARS2 mutations were identified in 78 patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, 13 of which have not been reported before | 24566671 |
| Type | IDs |
|---|---|
| Synonymous | ASPRS, LBSL, MT-ASPRS |
| Gene |
UniProtKB-ID:
SYDM_HUMAN,
Q9H9J7_HUMAN
UniprotKB:
Q6PI48,
Q9H9J7
UniParc:
UPI000006FC0E,
UPI00001C1D5B
EMBL:
AL109921,
AK022754,
BC045173
Ensembl:
ENSG00000117593
KO:
hsa:55157
|
| Nucleutide sequences |
EMBL-CDS:
AAH45173.1,
BAB14228.1
Ensembl_TRS:
ENST00000649689
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497569
RefSeq:
NP_001352141.1,
NP_060592.2,
NP_001352142.1
|
| Others |
UniRef100:
UniRef100_Q6PI48
UniRef90:
UniRef90_Q6PI48
UniRef50:
UniRef50_Q6PI48
UniGene:
Hs.647707
CCDS:
CCDS1311.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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