Entity Details

Primary name MLRV_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP10916
EntryNameMLRV_HUMAN
FullNameMyosin regulatory light chain 2, ventricular/cardiac muscle isoform
TaxID9606
Evidenceevidence at protein level
Length166
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesMYL2

GO terms

Show/Hide Table
GOName
GO:0002026 regulation of the force of heart contraction
GO:0003785 actin monomer binding
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0006942 regulation of striated muscle contraction
GO:0007507 heart development
GO:0008307 structural constituent of muscle
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0030308 negative regulation of cell growth
GO:0031672 A band
GO:0032036 myosin heavy chain binding
GO:0055003 cardiac myofibril assembly
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060047 heart contraction
GO:0097512 cardiac myofibril
GO:0098735 positive regulation of the force of heart contraction

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site

Diseases

Show/Hide Table
Disease IDSourceNameDescription
608758 OMIMCardiomyopathy, familial hypertrophic 10 (CMH10)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. The disease is caused by variants affecting the gene represented in this entry.