Entity Details

Primary name MYLK2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H1R3
EntryNameMYLK2_HUMAN
FullNameMyosin light chain kinase 2, skeletal/cardiac muscle
TaxID9606
Evidenceevidence at protein level
Length596
SequenceStatuscomplete
DateCreated2002-10-19
DateModified2021-06-02

Ontological Relatives

GenesMYLK2

GO terms

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GOName
GO:0004683 calmodulin-dependent protein kinase activity
GO:0004687 myosin light chain kinase activity
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006941 striated muscle contraction
GO:0007274 neuromuscular synaptic transmission
GO:0010628 positive regulation of gene expression
GO:0014816 skeletal muscle satellite cell differentiation
GO:0018107 peptidyl-threonine phosphorylation
GO:0030017 sarcomere
GO:0032027 myosin light chain binding
GO:0032971 regulation of muscle filament sliding
GO:0035914 skeletal muscle cell differentiation
GO:0045202 synapse
GO:0046777 protein autophosphorylation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site
IPR042717 Myosin light chain kinase 2, catalytic domainDomainDomain

Diseases

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Disease IDSourceNameDescription
192600 OMIMCardiomyopathy, familial hypertrophic 1 (CMH1)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB04825 PrenylamineDrugbanksmall molecule
DB12010 FostamatinibDrugbanksmall molecule