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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYLK3
myosin light chain kinase 3
Chromosome 16 Β· 16q11.2
NCBI Gene: 91807Ensembl: ENSG00000140795.14HGNC: HGNC:29826UniProt: Q32MK0
19PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of tight junction disassemblyprotein bindingcellular response to interleukin-1positive regulation of membrane permeabilitydilated cardiomyopathyfamilial dilated cardiomyopathyhypertrophic cardiomyopathyleft ventricular noncompaction
✦AI Summary

MYLK3 encodes cardiac-specific myosin light chain kinase (cMLCK), which plays a crucial role in cardiac contractility through phosphorylation of ventricular myosin regulatory light chain (MYL2) 1. The kinase regulates sarcomere organization and cardiac myofibril assembly, with proper function essential for maintaining normal cardiac contractility 1. Loss-of-function mutations in MYLK3 cause familial dilated cardiomyopathy (DCM), with heterozygous variants leading to reduced protein expression and impaired MYL2 phosphorylation 23. Mechanistically, MYLK3 deficiency increases the ratio of superrelaxed myosin states, contributing to systolic dysfunction 1. The protein is regulated by GATA4-mediated transcription and can be targeted by cardiotoxic drugs like sunitinib and osimertinib, which cause excessive autophagic degradation or transcriptional suppression respectively 45. MYLK3 also functions downstream of calcium/calmodulin signaling, phosphorylating CAMK2 to regulate calcium homeostasis through the PLN-SERCA2a pathway 4. Therapeutic restoration of MYLK3 activity represents a promising myotropic therapy for heart failure, as demonstrated by small molecule activators and gene therapy approaches 1.

Sources cited
1
MYLK3 encodes cardiac-specific myosin light chain kinase that phosphorylates MYL2 and regulates cardiac contractility
PMID: 37128901
2
MYLK3 mutations cause familial dilated cardiomyopathy in humans
PMID: 29235529
3
Heterozygous MYLK3 knockout mice show reduced cardiac contractility and protein expression
PMID: 31244672
4
MYLK3 regulates CAMK2-PLN-SERCA2a signaling pathway and can be degraded by excessive autophagy
PMID: 40568844
5
MYLK3 is transcriptionally regulated by GATA4 and targeted by osimertinib causing cardiotoxicity
PMID: 41330421
Disease Associationsβ“˜20
dilated cardiomyopathyOpen Targets
0.47Moderate
familial dilated cardiomyopathyOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
left ventricular noncompactionOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
subarachnoid hemorrhageOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
dilated cardiomyopathy 1AAOpen Targets
0.06Suggestive
familial atrial fibrillationOpen Targets
0.06Suggestive
dilated cardiomyopathy 1IOpen Targets
0.06Suggestive
Atrial stand stillOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Atrial septal defect - atrioventricular conduction defectsOpen Targets
0.06Suggestive
Romano-Ward syndromeOpen Targets
0.06Suggestive
dilated cardiomyopathy 1UOpen Targets
0.06Suggestive
hypertrophic cardiomyopathy 14Open Targets
0.06Suggestive
atrial heart septal defectOpen Targets
0.06Suggestive
left ventricular noncompaction 10Open Targets
0.06Suggestive
sick sinus syndrome 2, autosomal dominantOpen Targets
0.06Suggestive
dilated cardiomyopathy 1KKOpen Targets
0.06Suggestive
Pathogenic Variants1
NM_182493.3(MYLK3):c.1915-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
CALML4Protein interaction100%CALML6Protein interaction100%PRKACGProtein interaction99%PRKACBProtein interaction99%PRKACAProtein interaction99%CALML3Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
2%
Ovary
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYLK3CALML4CALML6PRKACGPRKACBPRKACACALML3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q32MK0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.61–0.95]
RankingsWhere MYLK3 stands among ~20K protein-coding genes
  • #14,470of 20,598
    Most Researched19
  • #5,389of 5,498
    Most Pathogenic Variants1
  • #8,894of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedMYLK3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Excessive autophagic degradation of MYLK3 causes sunitinib-induced cardiotoxicity.
PMID: 40568844
Autophagy Β· 2025
1.00
2
PMID: 32213617
Life Sci Alliance Β· 2020
0.90
3
Restoration of Cardiac Myosin Light Chain Kinase Ameliorates Systolic Dysfunction by Reducing Superrelaxed Myosin.
PMID: 37128901
Circulation Β· 2023
0.80
4
Heterozygous
PMID: 31244672
Front Physiol Β· 2019
0.70
5
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
PMID: 37390971
Pharmacol Ther Β· 2023
0.60