| Type | Description |
|---|---|
| Definition | filamin C |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:33:00 | A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers. | 32607581 |
| 2021-02-06 13:55:00 | FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy. | 33455984 |
| 2021-02-06 13:49:00 | FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. | 31924696 |
| 2020-12-26 13:15:00 | RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. | 31843279 |
| 2020-07-25 10:24:00 | phosphorylation leads to increased exposure of the residues surrounding the HspB1 phosphosite, facilitating their binding to a compact multidomain region of FLNC proposed to have mechanosensing functions | 31131323 |
| Type | IDs |
|---|---|
| Synonymous | ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5 |
| Gene |
UniProtKB-ID:
FLNC_HUMAN,
Q59H94_HUMAN
UniprotKB:
Q14315,
Q59H94
UniParc:
UPI00004F6A9D,
UPI0000EE406F,
UPI000006DE6D
EMBL:
AC025594,
AB371585,
AB208865,
AF184121,
AF184119,
X70084,
AJ012737,
CH471070,
AF252549,
AF184123,
AF184124,
AF184122,
X70083,
AF089841,
AF146692,
AF184125,
AF184120,
AF184126,
AJ132990
Ensembl:
ENSG00000128591
KO:
hsa:2318
|
| Nucleutide sequences |
EMBL-CDS:
CAA49689.1,
CAB46442.1,
AAD12245.1,
AAF68195.1,
EAW83691.1,
CAA49688.1,
CAB51535.1,
AAF67190.1,
AAF80245.1,
BAG48314.1,
BAD92102.1
Ensembl_TRS:
ENST00000346177,
ENST00000325888
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000344002,
ENSP00000327145
RefSeq:
NP_001120959.1,
NP_001449.3
|
| Others |
UniRef100:
UniRef100_Q14315
UniRef90:
UniRef90_Q14315
UniRef50:
UniRef50_P21333
UniGene:
Hs.58414
CCDS:
CCDS47705.1,
CCDS43644.1
|
| {{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