| Type | Description |
|---|---|
| Definition | myosin light chain 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:12:00 | Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2. | 31467300 |
| 2020-08-01 14:20:00 | An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy. | 32453731 |
| 2020-06-06 13:21:00 | Induced pluripotent stem cell-derived cardiomyocytes from a patient with MYL2-R58Q-mediated apical hypertrophic cardiomyopathy show cardiac hypertrophy, myofibrillar disarray, impairment of the intracellular Ca2+ homeostasis and delayed decay time, reduced Ca2+ current density, and arrhythmia. | 30796699 |
| 2019-11-23 11:28:00 | Using transgenic mice with cardiac-specific expression of human R58Q-RLC mutant, we sought to determine whether the hypertrophic cardiomyopathy phenotype observed in papillary muscles (PMs) of R58Q mice is also manifested in slow-twitch soleus (SOL) muscles. Consistent with SOL muscle abnormalities in R58Q vs. wild-type mice, myosin ATPase staining showed a decreased proportion of fiber type I/type II only in SOL muscles. | 30365366 |
| 2019-09-14 12:34:00 | The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians. | 30605904 |
| Type | IDs |
|---|---|
| Synonymous | CMH10, MLC-2s/v, MLC2 |
| Gene |
UniProtKB-ID:
MLRV_HUMAN,
Q6IB42_HUMAN
UniprotKB:
P10916,
Q6IB42
UniParc:
UPI0000000DF6
EMBL:
CR541957,
CR456962,
BC015821,
BC031008,
AF020768,
BC031006,
X14332,
S69022,
M22815,
AK312013,
CH471054
Ensembl:
ENSG00000111245
KO:
hsa:4633
|
| Nucleutide sequences |
EMBL-CDS:
AAH31006.1,
CAA32510.1,
AAB91993.1,
AAH31008.1,
AAA91832.1,
AAH15821.1,
AAB29658.2,
CAG46755.1,
CAG33243.1,
EAW97943.1,
BAG34951.1
Gene_ORFName:
hCG_40212
Ensembl_TRS:
ENST00000228841
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000228841
RefSeq:
NP_000423.2
|
| Others |
UniRef100:
UniRef100_P10916
UniRef90:
UniRef90_P10916
UniRef50:
UniRef50_P10916
UniGene:
Hs.75535
CCDS:
CCDS31901.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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