U.S. flag

An official website of the United States government

GTR Home > Genes

MYL2 myosin light chain 2

Gene ID: 4633, updated on 15-Apr-2023
Gene type: protein coding
Also known as: MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v


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]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study of a coronary artery disease risk variant.
GeneReviews: Not available
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
GeneReviews: Not available
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
GeneReviews: Not available
Hypertrophic cardiomyopathy 10See labs
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
GeneReviews: Not available
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MedGen: C5561937OMIM: 619424GeneReviews: Not available
See labs
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
GeneReviews: Not available

Genomic context

Chromosome: 12; NC_000012.12 (110910845..110921449, complement)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.