MYH11 - myosin heavy chain 11 Gene
Also Known as AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1
Species: Homo sapiens
About MYH11
This gene has 13 transcripts (splice variants), 1 gene allele, 286 orthologues, 43 paralogues and is associated with 104 phenotypes. Biased expression in esophagus (RPKM 836.6), prostate (RPKM 661.4) and 12 other tissues.
Summary
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]
MYH11 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001040113.2 | NP_001035202.1 | myosin-11 isoform SM2B |
| NM_001040114.2 | NP_001035203.1 | myosin-11 isoform SM1B |
| NM_002474.3 | NP_002465.1 | myosin-11 isoform SM1A |
| NM_022844.3 | NP_074035.1 | myosin-11 isoform SM2A |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19328794 | GOA |
| enables structural constituent of muscle |
IMP
IMP: Inferred from mutant phenotype
|
16444274 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cardiac muscle cell development |
IMP
IMP: Inferred from mutant phenotype
|
16444274 | GOA |
| involved in elastic fiber assembly |
IMP
IMP: Inferred from mutant phenotype
|
16444274 | GOA |
MYH11 Protein Structure
Myosin_N: Myosin N-terminal SH3-like domain (33 - 75)
Myosin_head: Myosin head (motor domain) (87 - 771)
Myosin_tail_1: Myosin tail (1074 - 1930)
- 0
- 400
- 800
- 1200
- 1600
- 1972 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myosin-11 |
|
MYH11 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81875 | Myosin Heavy Chain Smooth Muscle Antibody (YA1620) | WB, IHC-P | Human, Mouse |
| HY-P85963 | Myosin Heavy Chain Smooth Muscle Antibody (YA5655) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86043 | Myosin Heavy Chain Smooth Muscle Antibody (YA5735) | IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Aortic Aneurysm, Familial Thoracic 4 |
|
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
|
| Visceral Myopathy 2 |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
|
| Acute Myelomonocytic Leukemia |
|
|
| Microcolon |
|
|
| Tricuspid Valve Insufficiency |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Mitral Valve Insufficiency |
|
|
| Myeloid Leukemia |
|
|
| Aortic Aneurysm |
|
|
| Intraductal Papilloma |
|
|
| Aortic Dissection |
|
|
| Visceral Myopathy 1 |
|
|
| Leukemia |
|
|
| Myopia |
|
|
| Pleomorphic Adenoma |
|
|
| Ectopic Pregnancy |
|
|
| Core Binding Factor Acute Myeloid Leukemia |
|
|
| Aortic Valve Disease 1 |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Hydronephrosis |
|
|
| Pseudoxanthoma Elasticum |
|
|
| Myopathy |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Loeys-Dietz Syndrome |
|
|
| Ehlers-Danlos Syndrome, Vascular Type |
|
|
| Hypereosinophilic Syndrome |
|
|
| Arterial Tortuosity Syndrome |
|
|
| Prune Belly Syndrome |
|
|
| Breast Ductal Carcinoma |
|
|
| Loeys-Dietz Syndrome 3 |
|
|
| Aortic Disease |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Char Syndrome |
|
|
| Myeloid Leukemia Associated With Down Syndrome |
|
|
| Supravalvular Aortic Stenosis |
|
|
| Aortic Valve Insufficiency |
|
|
| Childhood Leukemia |
|
|
| Urofacial Syndrome 1 |
|
|
| Loeys-Dietz Syndrome 4 |
|
|
| Nystagmus 3, Congenital, Autosomal Dominant |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis |
|
|
| Moyamoya Disease 1 |
|
|
| Vulvar Leiomyoma |
|
|
| Orthostatic Intolerance |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Leukemia, Acute Myeloid |
|
|
| Atrial Heart Septal Defect |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Tetralogy Of Fallot |
|
|
| Williams-Beuren Syndrome |
|
|
| Rasopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | MYH11 | VGNC | VGNC:43536 |
| Bos taurus | MYH11 | VGNC | VGNC:31795 |
| Rattus norvegicus | MYH11 | RGD | RGD:3136 |
| Mus musculus | MYH11 | MGD | MGI:102643 |
| Macaca mulatta | MYH11 | VGNC | VGNC:75097 |
| Felis catus | MYH11 | VGNC | VGNC:68380 |
| Others | MYH11 | NCBI |