| Type | Description |
|---|---|
| Definition | cysteinyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2016-05-07 10:27:00 | Mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy. | 25787132 |
| 2015-03-21 10:52:00 | CARS2 is a novel disease gene associated with a severe progressive myoclonic epilepsy most resembling MERRF syndrome | 25361775 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | COXPD27, cysRS |
| Gene |
UniProtKB-ID:
SYCM_HUMAN,
B7Z7E6_HUMAN
UniprotKB:
Q9HA77,
B7Z7E6
UniParc:
UPI00019152ED,
UPI0000046055
EMBL:
AL139385,
AK301907,
AL157820,
AK022180,
AB062436,
BC007220
Ensembl:
ENSG00000134905
KO:
hsa:79587
|
| Nucleutide sequences |
EMBL-CDS:
BAB93499.1,
AAH07220.1,
BAB13978.1,
BAH13582.1
Gene_ORFName:
OK/SW-cl.10
Ensembl_TRS:
ENST00000257347
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000257347
RefSeq:
XP_011519420.1,
NP_001339181.1,
NP_078813.1,
NP_001339182.1,
XP_016876231.1,
XP_006720016.1,
XP_011519418.1,
XP_011519419.1,
XP_024305177.1,
XP_016876230.1
|
| Others |
UniRef100:
UniRef100_B7Z7E6,
UniRef100_Q9HA77
UniRef90:
UniRef90_B7Z7E6,
UniRef90_Q9HA77
UniRef50:
UniRef50_Q9HA77,
UniRef50_Q8BY51
UniGene:
Hs.508725
CCDS:
CCDS9514.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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