MYL2
entrez
4633
canonical
uniprot
P10916
canonical
ensembl
ENSG00000111245
resolver
ensp
ENSP00000228841
resolver
ensp
ENSP00000447154
resolver
ensp
ENSP00000499568
resolver
ensp
ENSP00000519106
resolver
ensp
ENSP00000519109
resolver
ensp
ENSP00000519110
resolver
ensp
ENSP00000519111
resolver
ensp
ENSP00000519112
resolver
ensp
ENSP00000519130
resolver
ensp
ENSP00000519132
resolver
ensp
ENSP00000519133
resolver
ensp
ENSP00000519134
resolver
ensp
ENSP00000519135
resolver
enst
ENST00000228841
resolver
enst
ENST00000548438
resolver
enst
ENST00000663220
resolver
enst
ENST00000713800
resolver
enst
ENST00000713803
resolver
enst
ENST00000713804
resolver
enst
ENST00000713805
resolver
enst
ENST00000713806
resolver
enst
ENST00000713826
resolver
enst
ENST00000713828
resolver
enst
ENST00000713829
resolver
enst
ENST00000713830
resolver
enst
ENST00000713831
resolver
genesymbol
MYL2
resolver
genesymbol_syn
MLC2
resolver
hgnc
HGNC:7583
resolver
uniprot
A0A590UJU8
resolver
uniprot
G3V1V8
resolver
uniprot
Q16123
resolver
uniprot
Q6IB42
resolver
uniprot_entry
A0A590UJU8_HUMAN
resolver
uniprot_entry
G3V1V8_HUMAN
resolver
uniprot_entry
MLRV_HUMAN
resolver
uniprot_entry
Q6IB42_HUMAN
resolver
uniprot_sec
Q16123
resolver
amino_acid_sequence
MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269|PubMed:11102452, ECO:0000269|PubMed:12404107, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12818575, ECO:0000269|PubMed:8673105, ECO:0000269|PubMed:9535554}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MFM12) [MIM:619424]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM12 is an autosomal recessive, severe form characterized by progressive myopathy with onset shortly after birth, tremor or clonus at birth, and cardiomyopathy usually leading to death by 6 months of age. Skeletal and cardiac muscle tissues show fiber-type disproportion with small type I and normal sized type II fibers, and myofibrillar disorganization. {ECO:0000269|PubMed:23365102, ECO:0000269|PubMed:32453731}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity). {ECO:0000250|UniProtKB:P08733, ECO:0000269|PubMed:23365102, ECO:0000269|PubMed:32453731}.
uniprot
proteins
mass_dalton
18789
uniprot
proteins
post_translational_modification
PTM: N-terminus is methylated by METTL11A/NTM1. {ECO:0000250|UniProtKB:P51667}.; PTM: Phosphorylated by MYLK3 and MYLK2; promotes cardiac muscle contraction and function (By similarity). Dephosphorylated by PPP1CB complexed to PPP1R12B (By similarity). The phosphorylated form in adult is expressed as gradients across the heart from endocardium (low phosphorylation) to epicardium (high phosphorylation); regulates cardiac torsion and workload distribution (By similarity). {ECO:0000250|UniProtKB:P08733, ECO:0000250|UniProtKB:P51667}.
uniprot
proteins
pubmed
11102452
uniprot
proteins
pubmed
11773029
uniprot
proteins
pubmed
12404107
uniprot
proteins
pubmed
12707239
uniprot
proteins
pubmed
12818575
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20038585
uniprot
proteins
pubmed
20445002
uniprot
proteins
pubmed
23365102
uniprot
proteins
pubmed
2704627
uniprot
proteins
pubmed
32453731
uniprot
proteins
pubmed
7498159
uniprot
proteins
pubmed
8287067
uniprot
proteins
pubmed
8673105
uniprot
proteins
pubmed
9535554
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, A band {ECO:0000250|UniProtKB:P08733}.
uniprot
proteins