| Type | Description |
|---|---|
| Definition | troponin I2, fast skeletal type |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 10:57:00 | High TNNI2 expression is associated with Peritoneal Metastasis in Gastric Cancer. | 29663169 |
| 2018-04-21 11:52:00 | Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca(2+) -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. | 28436080 |
| 2016-10-22 11:28:00 | TNNI2 gene missense mutation is associated with distal arthrogryposis type 1. | 26374086 |
| 2013-11-02 11:04:00 | report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism | 23850728 |
| 2012-11-17 10:24:00 | Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. | 22519952 |
| Type | IDs |
|---|---|
| Synonymous | AMCD2B, DA2B, FSSV, fsTnI |
| Gene |
UniProtKB-ID:
TNNI2_HUMAN
UniprotKB:
P48788
UniParc:
UPI00001F9ABA,
UPI0000001605
EMBL:
AJ245761,
L21715,
BI833431,
BC032148,
AC051649
Ensembl:
ENSG00000288219,
ENSG00000130598
KO:
hsa:7136
|
| Nucleutide sequences |
EMBL-CDS:
AAH32148.1,
CAB59981.1,
AAA19813.1
Ensembl_TRS:
ENST00000673526,
ENST00000672014,
ENST00000381906,
ENST00000381905,
ENST00000672632,
ENST00000252898,
ENST00000672155,
ENST00000381911
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000252898,
ENSP00000371336,
ENSP00000371331,
ENSP00000500698,
ENSP00000500808,
ENSP00000500770,
ENSP00000500044,
ENSP00000371330
RefSeq:
NP_001139301.1,
NP_003273.1,
NP_001139313.1
|
| Others |
UniRef100:
UniRef100_P48788
UniRef90:
UniRef90_P48788
UniRef50:
UniRef50_P48788
UniGene:
Hs.523403
CCDS:
CCDS53594.1,
CCDS31333.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
McGill University |
2 |
| 2 |
Uppsala University Children's Hospital |
2 |
| 3 |
Institute for Research in Biomedicine (IRB Barcelona) |
1 |
| 4 |
Biogen Inc., 250 Binney Street, Cambridge, Massachusetts 02142, USA. |
1 |
| 5 |
Lunenfeld-Tanenbaum Research Institute (LTRI) |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
S Sarkar |
3 |
| 2 |
P K Jha |
3 |
| 3 |
Sumio Sugano |
2 |
| 4 |
Yutaka Suzuki |
2 |
| 5 |
Ursula Skalska |
2 |