MYL2 myosin light chain 2
Gene ID: 4633, updated on 3-Apr-2024Gene type: protein coding
Also known as: MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v
- See all available tests in GTR for this gene
- Go to complete Gene record for MYL2
- Go to Variation Viewer for MYL2 variants
Summary
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
| Description | Tests |
|---|---|
| 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 10 | See 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 | 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
- Location:
- 12q24.11
- Sequence:
- Chromosome: 12; NC_000012.12 (110910845..110921449, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Leiden Muscular Dystrophy pages (MYL2)
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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