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GeneE
50 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.
MYH9
myosin heavy chain 9
Chromosome 22 Β· 22q12.3
NCBI Gene: 4627Ensembl: ENSG00000100345.24HGNC: HGNC:7579UniProt: P35579
712PubMed Papers
22Diseases
0Drugs
69Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin filament-based movementregulated exocytosissymbiont entry into host cellplatelet aggregationmacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossMYH9-related diseaseautosomal dominant nonsyndromic hearing loss 17autosomal dominant nonsyndromic hearing loss 2A
✦AI Summary

MYH9 encodes non-muscle myosin heavy chain IIA, a widely expressed cytoplasmic protein that generates intracellular chemomechanical force and regulates actin cytoskeleton translocation 1. Its functions are controlled through phosphorylation of light and heavy chains and protein interactions 1. MYH9 participates in diverse cellular processes including cytokinesis, cell migration, and angiogenesis 1. Beyond structural roles, phosphorylated MYH9 (particularly at Ser1943) functions as a signaling hub, recruiting proteins like USP22 to stabilize HIF-1Ξ± and regulate Ξ²-catenin/Wnt signaling through GSK-3Ξ² degradation 234. MYH9-related disease is an autosomal-dominant disorder characterized by macrothrombocytopenia, leukocyte inclusions, and variable renal failure, hearing loss, and cataracts 51. MYH9 variants also associate with non-syndromic deafness and chr22 kidney disease 1. Clinically, MYH9 dysregulation promotes cancer progression and therapeutic resistance across multiple malignancies. Elevated MYH9 expression correlates with lenvatinib resistance in hepatocellular carcinoma, platinum resistance in ovarian cancer, and cisplatin resistance in head and neck cancer, primarily through Wnt/Ξ²-catenin pathway activation 234. MYH9 also promotes liver fibrosis and gastric cancer progression through distinct signaling axes 67.

Sources cited
1
MYH9 encodes non-muscle myosin heavy chain IIA, a widely expressed cytoplasmic protein that generates intracellular chemomechanical force and regulates actin cytoskeleton translocation .
PMID: 29679756
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossOpen Targets
0.86Strong
MYH9-related diseaseOpen Targets
0.80Strong
autosomal dominant nonsyndromic hearing loss 17Open Targets
0.77Strong
autosomal dominant nonsyndromic hearing loss 2AOpen Targets
0.57Moderate
deafnessOpen Targets
0.53Moderate
ThrombocytopeniaOpen Targets
0.51Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.49Moderate
MacrothrombocytopeniaOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.42Moderate
Abnormal bleedingOpen Targets
0.42Moderate
melanomaOpen Targets
0.41Moderate
colorectal adenocarcinomaOpen Targets
0.41Moderate
cancerOpen Targets
0.39Weak
lung carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
gastric intestinal type adenocarcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Deafness, autosomal dominant, 17UniProt
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossUniProt
Pathogenic Variants69
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|Thrombocytopenia|Autosomal dominant nonsyndromic hearing loss 17|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1424
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided|Thrombocytopenia;Abnormal bleeding|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17
β˜…β˜…β˜†β˜†2025β†’ Residue 1933
NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)Likely pathogenic
not provided|MYH9-related disorder|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
β˜…β˜…β˜†β˜†2025β†’ Residue 74
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)Pathogenic
MYH9-related disorder|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 718
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided|Autosomal dominant nonsyndromic hearing loss 17|Deafness
β˜…β˜…β˜†β˜†2025β†’ Residue 1841
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|not provided|MYH9-related disorder|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17|Autosomal dominant nonsyndromic hearing loss 17
β˜…β˜…β˜†β˜†2025β†’ Residue 702
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)Pathogenic
Autosomal dominant nonsyndromic hearing loss 17|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|not provided|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17
β˜…β˜…β˜†β˜†2025β†’ Residue 705
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided|Thrombocytopenia;Abnormal bleeding|Autosomal dominant nonsyndromic hearing loss 17|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1165
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1424
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 702
NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)Pathogenic
MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 93
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Autosomal dominant nonsyndromic hearing loss 17|MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 96
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)Likely pathogenic
MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 373
NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)Pathogenic
MYH9-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 33
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)Pathogenic
MYH9-related disorder|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 95
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)Likely pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17
β˜…β˜…β˜†β˜†2024β†’ Residue 1516
NM_002473.6(MYH9):c.97T>C (p.Trp33Arg)Pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
β˜…β˜…β˜†β˜†2024β†’ Residue 33
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)Pathogenic
Rare genetic deafness|not provided|Autosomal dominant nonsyndromic hearing loss 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
β˜…β˜…β˜†β˜†2024β†’ Residue 1516
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)Likely pathogenic
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Macrothrombocytopenia
β˜…β˜…β˜†β˜†2022β†’ Residue 828
View on ClinVar β†—
Related Genes
MYL6Protein interaction100%MYL12BProtein interaction100%TPRNProtein interaction100%S100A4Protein interaction100%ACTBProtein interaction99%MYL9Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
49%
Heart
32%
Ovary
31%
Liver
27%
Brain
25%
Gene Interaction Network
Click a node to explore
MYH9MYL6MYL12BTPRNS100A4ACTBMYL9
PROTEIN STRUCTURE
Preparing viewer…
PDB4CFQ Β· 1.37 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.09–0.16]
RankingsWhere MYH9 stands among ~20K protein-coding genes
  • #301of 20,598
    Most Researched712 Β· top 5%
  • #1,046of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #246of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedMYH9
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
PMID: 29679756
Gene Β· 2018
1.00
2
Changes and Challenges.
PMID: 30776836
Hamostaseologie Β· 2019
0.94
3
The p-MYH9/USP22/HIF-1Ξ± axis promotes lenvatinib resistance and cancer stemness in hepatocellular carcinoma.
PMID: 39300073
Signal Transduct Target Ther Β· 2024
0.90
4
MYH9-related platelet disorders.
PMID: 19408192
Semin Thromb Hemost Β· 2009
0.82
5
MafG/MYH9-LCN2 axis promotes liver fibrosis through inhibiting ferroptosis of hepatic stellate cells.
PMID: 38871948
Cell Death Differ Β· 2024
0.80