AlphaFold predicted structure
MYL2 · P10916
Mean pLDDT
83.5/ 100
Confident
166 residues
Confidence breakdown
- Very high(≥ 90)54%
- Confident(70–90)31%
- Low(50–70)5%
- Very low(< 50)10%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MYL2
Chr 12q24.11myosin light chain 2
- Aliases:
- CMH10
- MANE:
- ENST00000228841.15
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalHypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy
Hereditary neuropathy or pain disorder
Disease associations (Open Targets)
hypertrophic cardiomyopathy 10
0.79hypertrophic cardiomyopathy
0.78myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
0.69cardiomyopathy
0.52cardiovascular disorder
0.52congenital fiber-type disproportion myopathy
0.50Rare familial disorder with hypertrophic cardiomyopathy
0.50Abnormality of the cardiovascular system
0.48familial hypertrophic cardiomyopathy
0.46myocardial infarction
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity)
Diseases associated with MYL2
Curated MONDO disease pages that list MYL2 among their top associated genes.