MYL2 Chromosome 12
Myosin light chain 2
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What This Gene Does
This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Myosin light chains, class 2
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000111245
Associated Conditions (21)
Hypertrophic cardiomyopathy 10
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Cardiomyopathy
Myopathy
myofibrillar
12
infantile-onset
with cardiomyopathy
MYL2-related disorder
Dilated cardiomyopathy 1S
Primary dilated cardiomyopathy
Sarcoma
Familial isolated restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
Premature ventricular contraction
Death in infancy
Congenital heart disease
+1 more conditions
Key Variants
RS104894363
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
Health Risk
RS1060499882
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
Health Risk
RS1064796377
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar
Health Risk
RS111373423
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, MYL2-related disorder, Hypertrophic cardiomyopathy 10
Health Risk
RS112865045
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
Health Risk
RS1177936172
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS143139258
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
Health Risk
RS1467265277
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1555258369
Conflicting classifications of pathogenicity
Familial isolated restrictive cardiomyopathy, Hypertrophic cardiomyopathy 10, Familial isolated restrictive cardiomyopathy
Health Risk
RS1566147422
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Congenital myopathy with fiber type disproportion
Health Risk
RS192057022
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
Health Risk
RS193922452
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727504425 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS730880952 | Health Risk | Likely pathogenic | — |
| RS2136767620 | Health Risk | Pathogenic | Congenital heart disease, Congenital heart disease |
| RS104894368 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 10, Death in early adulthood, Hypertrophic cardiomyopathy |
| RS104894370 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Myopathy |
| RS199474815 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy 10 |
| RS2136770901 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS587782965 | Health Risk | Pathogenic/Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy |