MYLK2

Chr 20q11.21

myosin light chain kinase 2

Aliases:: skMLCK, KMLC, MLCK2
MANE:: ENST00000375985.5

OMIM: 606566 ↗NCBI: 85366 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYLK2 · Q9H1R3

v62025-08-01

Predicted Aligned Error matrix for MYLK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.3/ 100

Low

596 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)13%
Low(50–70)4%
Very low(< 50)43%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection
Thoracic aortic aneurysm or dissection (GMS)
Sudden death in young people
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

familial hypertrophic cardiomyopathy
0.57
hypertrophic cardiomyopathy 1
0.52
cardiomyopathy
0.34
Rare familial disorder with hypertrophic cardiomyopathy
0.21
hypertrophic cardiomyopathy
0.18
ventricular tachycardia
0.12
Left ventricular noncompaction cardiomyopathy
0.12
dilated cardiomyopathy 1KK
0.12
Parkinson disease
0.11
Angiokeratoma corporis diffusum
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myosin light chain kinase 2, skeletal/cardiac muscle

Ca(2+)/calmodulin-dependent kinase that phosphorylates the regulatory light chain (RLC) of sarcomeric myosin in skeletal and cardiac muscle. Phosphorylation of RLC promotes displacement of myosin cross-bridges from the thick filament backbone toward actin-containing thin filaments, increasing the probability of cross-bridge entry into force-generating states and thereby potentiating contractile force at submaximal Ca(2+) concentrations