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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYH4
myosin heavy chain 4
Chromosome 17 · 17p13.1
NCBI Gene: 4622Ensembl: ENSG00000264424.1HGNC: HGNC:7574UniProt: Q9Y623
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
myofibrildouble-stranded RNA bindingmuscle contractionmyosin filamentocular hypotensionDistal myopathy, Nonaka typedistal myopathy, Welander typetibial muscular dystrophy
✦AI Summary

MYH4 encodes myosin heavy chain 4, a class II myosin responsible for fast-twitch muscle contraction through actin-myosin interactions and ATP hydrolysis 1. While humans have evolutionarily lost MYH4 expression, it remains functional in smaller mammals like mice and can be reactivated in human skeletal muscle through large MAF transcription factor overexpression, which increases MYH4 mRNA 100-1000 fold and enhances glycolytic capacity 1. Beyond its canonical contractile role, MYH4 functions as a tumor suppressor by promoting DNA replication licensing and fork progression; loss of MYH4 increases genomic instability and accelerates mammary tumorigenesis in p53-deficient backgrounds 2. During myogenic differentiation, MYH4 expression is dynamically regulated and responsive to developmental signals; SNX5-mediated PKA signaling suppresses MYH4 expression during this process, while HMPA treatment promotes MYH4 expression and fast-twitch fiber development 3, 4. MYH4 expression is significantly influenced by neurovascular cells in co-culture systems, demonstrating context-dependent regulation of myosin isoform expression 5. Species-specific promoter differences, particularly within the CArG-box region, account for differential MYH4 expression between humans and pigs 6. These findings establish MYH4 as a multifunctional protein linking muscle physiology, genomic stability, and fiber type specification.

Sources cited
1
MYH4 suppresses genomic instability by promoting DNA replication licensing and fork progression; loss of MYH4 accelerates tumorigenesis in Trp53-deficient mice
PMID: 40454487
2
Large MAF transcription factors induce MYH4 expression in human myotubes (100-1000 fold increase), restore MYH4 protein expression, and enhance glycolytic metabolism
PMID: 40713776
3
MYH4 expression is differentially regulated by motor neurons and endothelial cells in triculture systems with skeletal myocytes
PMID: 38454511
4
MYH4 is upregulated during C2C12 myoblast differentiation into myotubes
PMID: 39289290
5
SNX5-mediated PKA signaling suppresses MYH4 expression during myogenic differentiation; myostatin reduces fast-twitch MYH4 expression
PMID: 41077709
6
HMPA treatment increases MYH4 protein and gene expression in soleus muscle and promotes fast-twitch fiber development through IGF-1 pathway activation
PMID: 40004996
7
Species-specific 3 bp difference in the CArG-box promoter region explains differential MYH4 expression between pigs and humans
PMID: 25469802
8
MYH4 gene deletion in mice leads to abnormal expression of neighboring fast myosin genes
PMID: 38160435
Disease Associationsⓘ20
ocular hypotensionOpen Targets
0.28Weak
Distal myopathy, Nonaka typeOpen Targets
0.09Suggestive
distal myopathy, Welander typeOpen Targets
0.08Suggestive
tibial muscular dystrophyOpen Targets
0.08Suggestive
myopathy, distal, 5Open Targets
0.08Suggestive
GNE myopathyOpen Targets
0.07Suggestive
Congenital myasthenic syndromesOpen Targets
0.07Suggestive
autosomal dominant childhood-onset proximal spinal muscular atrophy without contracturesOpen Targets
0.07Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2HOpen Targets
0.07Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.07Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.07Suggestive
spinal muscular atrophy, type IVOpen Targets
0.07Suggestive
polyglucosan body myopathy type 2Open Targets
0.07Suggestive
myofibrillar myopathy 3Open Targets
0.07Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.07Suggestive
Hereditary proximal myopathy with early respiratory failureOpen Targets
0.07Suggestive
Distal myotilinopathyOpen Targets
0.07Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.07Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2POpen Targets
0.07Suggestive
muscular dystrophy, limb-girdle, autosomal recessive 26Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYL12BProtein interaction100%MYL9Protein interaction99%MYL12AProtein interaction99%MYH10Protein interaction99%MYL2Protein interaction96%MYH11Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Lung
0%
Heart
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYH4MYL12BMYL9MYL12AMYH10MYL2MYH11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y623
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.74–0.94]
RankingsWhere MYH4 stands among ~20K protein-coding genes
  • #10,040of 20,598
    Most Researched41
  • #8,690of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedMYH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The class II myosin MYH4 safeguards genome integrity and suppresses tumor progression.
PMID: 40454487
J Clin Invest · 2025
1.00
2
Large MAF transcription factors reawaken evolutionarily dormant fast-glycolytic type IIb myofibers in human skeletal muscle.
PMID: 40713776
Skelet Muscle · 2025
0.90
3
Motor neurons and endothelial cells additively promote development and fusion of human iPSC-derived skeletal myocytes.
PMID: 38454511
Skelet Muscle · 2024
0.80
4
Transcriptome Analysis of Differentially Expressed Genes and Molecular Pathways Involved in C2C12 Cells Myogenic Differentiation.
PMID: 39289290
Mol Biotechnol · 2025
0.70
5
The Novel MuRF2 Target SNX5 Regulates PKA Activity Through Stabilization of RI-α and Controls Myogenic Differentiation.
PMID: 41077709
J Cachexia Sarcopenia Muscle · 2025
0.60