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GeneE
26 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.
MYH11
myosin heavy chain 11
Chromosome 16 Β· 16p13.11
NCBI Gene: 4629Ensembl: ENSG00000133392.20HGNC: HGNC:7569UniProt: A0A024QZJ4
157PubMed Papers
23Diseases
0Drugs
75Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranestructural constituent of muscleelastic fiber assemblycardiac muscle cell developmentaortic aneurysm, familial thoracic 4megacystis-microcolon-intestinal hypoperistalsis syndrome 2familial thoracic aortic aneurysm and aortic dissectionvisceral myopathy 2
✦AI Summary

MYH11 encodes myosin heavy chain 11, a critical structural protein involved in smooth muscle contraction and cellular organization. The protein functions as a component of myosin II complexes and contributes to actomyosin structure organization in smooth muscle cells 1. MYH11+ cells demonstrate remarkable plasticity and serve diverse roles across tissues. In vascular biology, MYH11+ pericytes contribute to bone and hematopoietic regeneration following genotoxic stress, responding to CXCL12 signaling from lymphatic endothelial cells 2. In adipose tissue, MYH11+ smooth muscle cells within aortic adventitia can differentiate into perivascular adipocytes, highlighting their multipotent capacity 1. In cancer contexts, MYH11+ cancer-associated fibroblasts form protective barriers around tumor nests, contributing to T-cell exclusion through dense collagen IV matrix deposition and specific tissue organization 34. MYH11 is clinically significant in cardiovascular disease, as mutations are associated with familial thoracic aortic aneurysms and other smooth muscle-related disorders 5. The protein's expression serves as a marker for smooth muscle cell lineage tracking in atherosclerotic lesions, where SMC-derived cells exhibit extensive phenotypic plasticity 6. These findings establish MYH11 as a key regulator of smooth muscle function with broad implications for vascular health and disease.

Sources cited
1
MYH11+ pericytes contribute to bone and hematopoietic regeneration following genotoxic stress
PMID: 36669473
2
MYH11+ smooth muscle cells in aortic adventitia can differentiate into perivascular adipocytes
PMID: 33846639
3
MYH11+ cancer-associated fibroblasts form protective barriers around tumor nests and contribute to T-cell exclusion
PMID: 36027053
4
MYH11+ fibroblasts play a role in tumor immune microenvironment and cervical cancer progression
PMID: 40616092
5
16p13.11 duplications containing MYH11 are associated with cardiovascular disease risk
PMID: 30287593
6
MYH11 serves as a marker for smooth muscle cell lineage in atherosclerotic lesions with extensive phenotypic plasticity
PMID: 32674599
Disease Associationsβ“˜23
aortic aneurysm, familial thoracic 4Open Targets
0.76Strong
megacystis-microcolon-intestinal hypoperistalsis syndrome 2Open Targets
0.75Strong
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.66Moderate
visceral myopathy 2Open Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
familial visceral myopathyOpen Targets
0.50Moderate
Rare genetic vascular diseaseOpen Targets
0.48Moderate
megacystis-microcolon-intestinal hypoperistalsis syndrome 1Open Targets
0.47Moderate
atrial fibrillationOpen Targets
0.47Moderate
megacystis-microcolon-intestinal hypoperistalsis syndromeOpen Targets
0.46Moderate
coronary artery diseaseOpen Targets
0.46Moderate
endometriosisOpen Targets
0.42Moderate
aortic aneurysmOpen Targets
0.39Weak
heart failureOpen Targets
0.39Weak
myocardial infarctionOpen Targets
0.38Weak
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.38Weak
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissectionsOpen Targets
0.38Weak
Ovarian EndometriosisOpen Targets
0.34Weak
urinary system diseaseOpen Targets
0.34Weak
cholelithiasisOpen Targets
0.34Weak
Aortic aneurysm, familial thoracic 4UniProt
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2UniProt
Visceral myopathy 2UniProt
Pathogenic Variants75
NM_002474.3(MYH11):c.4578+1G>APathogenic
not provided|Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025
NM_002474.3(MYH11):c.1033+1G>APathogenic
Megacystis, microcolon, hypoperistalsis syndrome|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
β˜…β˜…β˜†β˜†2024
NM_002474.3(MYH11):c.4578+1G>CPathogenic
Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2024
NM_002474.3(MYH11):c.3858+1G>ALikely pathogenic
Aortic aneurysm, familial thoracic 4|not provided
β˜…β˜…β˜†β˜†2023
NM_002474.3(MYH11):c.5083-1G>APathogenic
not provided|Aortic aneurysm, familial thoracic 4
β˜…β˜…β˜†β˜†2021
NM_002474.3(MYH11):c.4578+1G>TPathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.5350G>T (p.Glu1784Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1784
NM_001040113.2(MYH11):c.634-1G>ALikely pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.3071del (p.Asn1024fs)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025β†’ Residue 1024
NM_001040113.2(MYH11):c.654+1G>TLikely pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.499C>T (p.Gln167Ter)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025β†’ Residue 167
NM_002474.3(MYH11):c.3362C>G (p.Ser1121Ter)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025β†’ Residue 1121
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025β†’ Residue 1467
NM_002474.3(MYH11):c.3963+1G>ALikely pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.3652-2A>GLikely pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.1861del (p.Asp621fs)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025β†’ Residue 621
NM_002474.3(MYH11):c.5613+1G>ALikely pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2025
NM_002474.3(MYH11):c.4278dup (p.Gln1427fs)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2024β†’ Residue 1427
NM_002474.3(MYH11):c.2283C>G (p.Tyr761Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 761
NM_002474.3(MYH11):c.4810del (p.Glu1604fs)Pathogenic
Aortic aneurysm, familial thoracic 4
β˜…β˜†β˜†β˜†2024β†’ Residue 1604
View on ClinVar β†—
Related Genes
MYL6Protein interaction100%MYL12BProtein interaction100%CNN1Protein interaction100%CBFBProtein interaction99%MYL12AProtein interaction99%ACTBProtein interaction98%
Tissue Expression6 tissues
Ovary
100%
Lung
88%
Heart
68%
Brain
16%
Liver
8%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
MYH11MYL6MYL12BCNN1CBFBMYL12AACTB
PROTEIN STRUCTURE
Preparing viewer…
PDB9FU2 Β· 2.58 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.31 [0.26–0.38]
RankingsWhere MYH11 stands among ~20K protein-coding genes
  • #2,868of 20,598
    Most Researched157 Β· top quartile
  • #979of 5,498
    Most Pathogenic Variants75 Β· top quartile
  • #1,799of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedMYH11
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Lymphatic vessels in bone support regeneration after injury.
PMID: 36669473
Cell Β· 2023
1.00
2
Loeys-Dietz Syndrome.
PMID: 34807423
Adv Exp Med Biol Β· 2021
0.90
3
Defining the lineage of thermogenic perivascular adipose tissue.
PMID: 33846639
Nat Metab Β· 2021
0.80
4
Association of gene polymorphisms in MYH11 and TGF-Ξ² signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
PMID: 34729648
Mamm Genome Β· 2022
0.72
5
Spatial Positioning and Matrix Programs of Cancer-Associated Fibroblasts Promote T-cell Exclusion in Human Lung Tumors.
PMID: 36027053
Cancer Discov Β· 2022
0.70