MYLK3

Chr 16q11.2

myosin light chain kinase 3

Aliases:: caMLCK, MLCK
MANE:: ENST00000394809.9

OMIM: 612147 ↗NCBI: 91807 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MYLK3 · Q32MK0

v62025-08-01

Predicted Aligned Error matrix for MYLK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.7/ 100

Low

819 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)15%
Low(50–70)11%
Very low(< 50)47%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

dilated cardiomyopathy
0.48
familial dilated cardiomyopathy
0.14
Rare familial disorder with hypertrophic cardiomyopathy
0.09
hypertrophic cardiomyopathy
0.09
familial isolated dilated cardiomyopathy
0.09
left ventricular noncompaction
0.08
Arrhythmogenic right ventricular dysplasia
0.08
arrhythmogenic right ventricular dysplasia 1
0.08
glycogen storage disease due to muscle and heart glycogen synthase deficiency
0.08
Atrial septal defect - atrioventricular conduction defects
0.07

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

Protein function (UniProt)

Myosin light chain kinase 3

Kinase that phosphorylates MYL2 in vitro (By similarity). Has been proposed to be calmodulin-dependent, although MYL2 phosphorylation has also been observed in the presence or absence of calmodulin (By similarity). Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity)