Gene: MYL2

Alternate names for this Gene: CMH10|MLC-2s/v|MLC2

Gene Summary: Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: myosin light chain 2

Type of Gene: protein-coding

rs104894363 in MYL2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 9535554 1998 Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

PMID 12404107 2002 Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

PMID 11102452 2001 Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 14594949 2004 Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

PMID 16076902 2005 The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

PMID 25324513 2014 Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 12668451 2003 Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

PMID 17606808 2007 Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 26497160 2016 Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 19150977 2009 Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

PMID 23727233 2013 Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.

PMID 20855589 2010 Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.

PMID 26116789 2015 Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load.

PMID 21723297 2011 Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 23365102 2013 Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

PMID 11748309 2001 Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.

PMID 27378946 2016 Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

rs10849917 in MYL2 gene and Coronary heart disease PMID 23364394 2013 A genome-wide association study of a coronary artery disease risk variant.

rs104894368 in MYL2 gene and Death in early adulthood PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs11065774 in MYL2 gene and Drinking behavior processes PMID 21372407 2011 Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.

PMID 23364009 2013 Common variants at 12q24 are associated with drinking behavior in Han Chinese.

rs104894368 in MYL2 gene and Hypertrophic Cardiomyopathy PMID 12668451 2003 Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

PMID 9724616 1998 Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.

PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 16751284 2006 E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.

PMID 11102452 2001 Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

PMID 17606808 2007 Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.

PMID 16076902 2005 The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

PMID 12404107 2002 Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

PMID 26497160 2016 Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

PMID 10948063 2000 In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.

PMID 9535554 1998 Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

PMID 23727233 2013 Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 20855589 2010 Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.

PMID 14594949 2004 Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

PMID 18929571 2009 Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.

PMID 21835320 2011 Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

PMID 21723297 2011 Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 23343568 2013 Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

rs3782889 in MYL2 gene and Metabolic Syndrome X PMID 29632305 2018 New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

rs2040571 in MYL2 gene and Neutrophil count (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs17550549 in MYL2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs2040571 in MYL2 gene and White Blood Cell Count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.