| Type | Description |
|---|---|
| Definition | asparaginyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2019-03-16 11:31:00 | The AARS2 variant accounts for a significant number of cases with Non-immune Hydrops Fetalis in the cohort of pregnancies Omani patients. | 28822227 |
| 2018-11-10 12:05:00 | NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115. | 30088171 |
| 2018-01-13 13:59:00 | The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. | 28077841 |
| 2016-01-16 12:20:00 | Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05. | 25649651 |
| 2016-01-02 11:41:00 | In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2 | 25807530 |
| Type | IDs |
|---|---|
| Synonymous | DFNB94, SLM5, asnRS |
| Gene |
UniProtKB-ID:
SYNM_HUMAN,
Q9H5H1_HUMAN,
B3KPX5_HUMAN
UniprotKB:
Q96I59,
Q9H5H1,
B3KPX5
UniParc:
UPI000006E1F4,
UPI00001A83C3,
UPI000006E764,
UPI000036680B
EMBL:
AK056980,
AP003110,
AP003086,
AK027094,
CH471076,
BC007800
Ensembl:
ENSG00000137513
KO:
hsa:79731
|
| Nucleutide sequences |
EMBL-CDS:
EAW75061.1,
AAH07800.2,
BAB15655.1,
BAG51837.1
Ensembl_TRS:
ENST00000528850,
ENST00000281038
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000432635,
ENSP00000281038
RefSeq:
XP_016873791.1,
XP_016873793.1,
XP_016873792.1,
NP_001230180.1,
NP_078954.4,
XP_011543555.1
|
| Others |
UniRef100:
UniRef100_Q96I59,
UniRef100_B3KPX5,
UniRef100_Q9H5H1
UniRef90:
UniRef90_Q96I59,
UniRef90_A0A2K5LS65
UniRef50:
UniRef50_G5AW60,
UniRef50_Q96I59
UniGene:
Hs.503389
CCDS:
CCDS58164.1,
CCDS8261.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员