| Type | Description |
|---|---|
| Definition | transmembrane protein 43 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 10:12:00 | Five TMEM43 mutations have been described resulting in clinical phenotype that presents significantly earlier in males, shows biventricular involvement and is characterised by a high incidence of premature Sudden Cardiac Death and severe Heart Failure in survivors. | 30792239 |
| 2019-10-26 11:31:00 | Arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations were more likely to have biventricular arrhythmogenic substrate and more inducible ventricular tachycardias. | 28960618 |
| 2017-09-16 11:57:00 | TMEM43 deficiency significantly affects colony formation, survival of anoikis-induced cell death, migration and invasion of cancer cells in vitro, as well as tumor progression in vivo. | 27991920 |
| 2017-09-02 13:56:00 | A very rare mutation in TMEM 43 for the development of Arrhythmogenic cardiomyopathy has a definite connection with desmosomal proteins (plakoglobin) and justifies in a highly arrhythmogenic form of the disease. | 27389450 |
| 2016-07-02 10:40:00 | Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation. | 26966288 |
| Type | IDs |
|---|---|
| Synonymous | ARVC5, ARVD5, EDMD7, LUMA |
| Gene |
UniProtKB-ID:
TMM43_HUMAN,
A0A024R2F9_HUMAN
UniprotKB:
Q9BTV4,
A0A024R2F9
UniParc:
UPI0000048F42
EMBL:
BC011719,
CH471055,
AK027877,
AK075010,
AY358625,
AL136916,
AK027466,
BC008054,
AK027827,
BC003125,
AK027757,
KU178769
Ensembl:
ENSG00000170876
KO:
hsa:79188
|
| Nucleutide sequences |
EMBL-CDS:
BAB55425.1,
BAB55396.1,
AAH03125.1,
CAB66850.1,
AAQ88988.1,
BAB55348.1,
BAB55131.1,
AAH08054.2,
BAC11350.1,
AAH11719.1,
EAW64185.1,
EAW64184.1,
ALQ34227.1,
EAW64187.1
Gene_ORFName:
UNQ2564/PRO6244,
hCG_27238
Ensembl_TRS:
ENST00000306077
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000303992
RefSeq:
XP_016862665.1,
NP_077310.1
|
| Others |
UniRef100:
UniRef100_Q9BTV4
UniRef90:
UniRef90_Q9BTV4
UniRef50:
UniRef50_Q9BTV4
UniGene:
Hs.517817
CCDS:
CCDS2618.1
|
| {{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