Type | Description |
---|---|
Definition | leucyl-tRNA synthetase 2, mitochondrial |
Date | Results | Publications |
---|---|---|
2019-12-14 10:38:00 | This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature. | 30737337 |
2019-06-29 11:34:00 | We report novel associations between methylation at MSI2 and LARS2 and obesity-related traits. These results provide further insight into mechanisms underlying obesity-related traits, which can enable identification of new biomarkers in obesity-related chronic diseases. | 29762635 |
2019-01-12 10:43:00 | We concluded that Perrault syndrome patients with LARS2 mutations are at risk for neurologic problems, despite previous notions otherwise. | 29205794 |
2018-07-14 10:55:00 | IARS2 knockdown inhibits proliferation, suppresses colony formation, and causes cell cycle arrest in AGS cells. | 29071539 |
2017-07-01 10:55:00 | ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 | 26970254 |
Type | IDs |
---|---|
Synonymous | HLASA, LEURS, PRLTS4, mtLeuRS |
Gene |
UniProtKB-ID:
SYLM_HUMAN
UniprotKB:
Q15031
UniParc:
UPI0000001297
EMBL:
D21851,
BC025989
Ensembl:
ENSG00000011376
KO:
hsa:23395
|
Nucleutide sequences |
EMBL-CDS:
BAA04877.2,
AAH25989.1
Ensembl_TRS:
ENST00000642274,
ENST00000650792,
ENST00000645846
|
Protein sequencees |
Ensembl_PRO:
ENSP00000495093,
ENSP00000498867,
ENSP00000495707
RefSeq:
NP_001355192.1,
NP_056155.1,
XP_011531856.1,
XP_016861531.1
|
Others |
UniRef100:
UniRef100_Q15031
UniRef90:
UniRef90_Q15031
UniRef50:
UniRef50_Q15031
UniGene:
Hs.526975
CCDS:
CCDS2728.1
|
{{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