| Type | Description |
|---|---|
| Definition | arginyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2017-11-11 13:21:00 | Characteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations | 27769281 |
| 2017-01-28 10:51:00 | RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as early onset epileptic encephalopathies with post-natal microcephaly, without pontocerebellar hypoplasia. | 26970947 |
| 2016-01-23 11:55:00 | Mutations in the RARS2 promoter are likely to represent a new causal mechanism of pontocerebellar hypoplasia. | 25809939 |
| 2013-09-28 11:58:00 | Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A. | 22569581 |
| 2012-08-11 11:27:00 | mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report] | 22086604 |
| Type | IDs |
|---|---|
| Synonymous | ArgRS, DALRD2, PCH6, PRO1992, RARSL |
| Gene |
UniProtKB-ID:
SYRM_HUMAN,
H0UI22_HUMAN
UniprotKB:
Q5T160,
H0UI22
UniParc:
UPI0000EE1E9B,
UPI000020D2E6
EMBL:
BC010420,
AK023550,
AL451126,
AK315669,
AL049697,
CH471051
Ensembl:
ENSG00000146282
KO:
hsa:57038
|
| Nucleutide sequences |
EMBL-CDS:
BAB14608.1,
EAW48584.1,
AAH10420.1,
BAG38034.1,
EAW48588.1,
EAW48590.1,
EAW48591.1
Gene_ORFName:
hCG_2031107
Ensembl_TRS:
ENST00000369536
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358549
RefSeq:
XP_016866562.1,
NP_001305714.1,
NP_001337439.1,
XP_024302262.1,
NP_001337436.1,
XP_016866567.1,
NP_001337434.1,
XP_016866566.1,
XP_011534251.1,
XP_016866564.1,
NP_064716.2,
NP_001337440.1,
NP_001337435.1,
XP_016866563.1,
NP_001337438.1,
XP_016866565.1,
NP_001337437.1
|
| Others |
UniRef100:
UniRef100_Q5T160
UniRef90:
UniRef90_Q5T160
UniRef50:
UniRef50_Q5T160
UniGene:
Hs.485910
CCDS:
CCDS5011.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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