| Type | Description |
|---|---|
| Definition | glutamyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2012-06-30 11:50:00 | This study presented that a new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2. | 22492562 |
| 2012-03-23 08:38:00 | Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients | 22277967 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB. | 19805282 |
| Type | IDs |
|---|---|
| Synonymous | COXPD12, MSE1, gluRS |
| Gene |
UniProtKB-ID:
SYEM_HUMAN
UniprotKB:
Q5JPH6
UniParc:
UPI000015FBF2,
UPI000019839B
EMBL:
CH471145,
AK095998,
BC040013,
AB075850,
AL832489
Ensembl:
ENSG00000103356
KO:
hsa:124454
|
| Nucleutide sequences |
EMBL-CDS:
EAW55822.1,
CAI46121.1,
BAB85556.1,
EAW55824.1,
BAG53194.1,
AAH40013.1
Ensembl_TRS:
ENST00000674054,
ENST00000563232,
ENST00000449606,
ENST00000563459
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000456218,
ENSP00000456467,
ENSP00000395196,
ENSP00000501251
RefSeq:
XP_011544040.1,
NP_001077083.1,
NP_001295140.1
|
| Others |
UniRef100:
UniRef100_Q5JPH6
UniRef90:
UniRef90_Q5JPH6
UniRef50:
UniRef50_Q5JPH6
UniGene:
Hs.620541
CCDS:
CCDS76844.1,
CCDS42132.1
|
| {{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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