| Type | Description |
|---|---|
| Definition | methionyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2016-03-05 10:20:00 | Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss | 25754315 |
| 2012-07-14 10:33:00 | MARS2 is mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy patients. | 22448145 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | Sequence analysis of mitochondrial MetRS indicates that this protein contains consensus motifs characteristic of class I aminoacyl-tRNA synthetase but lacks Zn2+ binding motif and C-terminal dimerization region found in MetRSs from various organisms. | 15274629 |
| Type | IDs |
|---|---|
| Synonymous | COXPD25, MetRS, mtMetRS |
| Gene |
UniProtKB-ID:
SYMM_HUMAN
UniprotKB:
Q96GW9
UniParc:
UPI00000492CE
EMBL:
BC009115,
AC073058,
AB107013,
AK098121,
BC040934,
BC126294
Ensembl:
ENSG00000247626
KO:
hsa:92935
|
| Nucleutide sequences |
EMBL-CDS:
AAI26295.1,
BAC92749.1,
AAH40934.1,
BAC05238.1,
AAH09115.1,
AAX93244.1
Ensembl_TRS:
ENST00000282276
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000282276
RefSeq:
NP_612404.1
|
| Others |
UniRef100:
UniRef100_Q96GW9
UniRef90:
UniRef90_Q96GW9
UniRef50:
UniRef50_Q96GW9
UniGene:
Hs.744330
CCDS:
CCDS33358.1
|
| {{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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