MYH11 Chromosome 16
Myosin heavy chain 11
Upload your DNA to see your personal genotypes for variants in MYH11.
What This Gene Does
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
16p13.11
Ensembl
ENSG00000133392
Associated Conditions (37)
Familial thoracic aortic aneurysm and aortic dissection
Aortic aneurysm
familial thoracic 4
Visceral myopathy 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Familial aortopathy
MYH11-related disorder
Isolated thoracic aortic aneurysm
Cardiovascular phenotype
Colorectal cancer
Connective tissue disorder
Thyroid cancer
nonmedullary
1
Cervical cancer
Colon adenocarcinoma
Marfan syndrome
Altered myosin contractile function
Loeys-Dietz syndrome
Congenital aneurysm of ascending aorta
+17 more conditions
Key Variants
RS1011581295
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Health Risk
RS1013512621
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1029371842
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1041344233
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Health Risk
RS1055960218
Conflicting classifications of pathogenicity
Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection, Familial aortopathy
Health Risk
RS1057518389
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057522776
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060500725
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1064795023
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1064797209
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Aortic aneurysm
Health Risk
RS111325146
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Health Risk
RS111404182
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (298)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518938 | Health Risk | Likely pathogenic | Myopia, Aortic root aneurysm, Tricuspid regurgitation |
| RS113930991 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS113989591 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS1555459260 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1596730121 | Health Risk | Likely pathogenic | — |
| RS2040998358 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2041270139 | Health Risk | Likely pathogenic | — |
| RS2151211152 | Health Risk | Likely pathogenic | — |
| RS2151219802 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151225126 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151235993 | Health Risk | Likely pathogenic | — |
| RS2151240720 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151259960 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151260748 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506094292 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506103419 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506126021 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506177078 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
| RS2506192228 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506578179 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS794728666 | Health Risk | Likely pathogenic | — |
| RS794728672 | Health Risk | Likely pathogenic | — |
| RS1439991530 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS1567692384 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2041000390 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2041090817 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151192622 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151219190 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151236178 | Health Risk | Pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
| RS2151244040 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2151244350 | Health Risk | Pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
| RS2151269056 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506104244 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506141454 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506177716 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506177866 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506265794 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506444711 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS2506953147 | Health Risk | Pathogenic | — |
| RS566506678 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS766136761 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS797045725 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
| RS8046180 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS911589242 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS112534511 | Health Risk | Pathogenic/Likely pathogenic | Megacystis, microcolon, hypoperistalsis syndrome |
| RS1596712899 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS397514037 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 4, Aortic aneurysm |
| RS786205435 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 1 |