Gene: MYH11

Alternate names for this Gene: AAT4|FAA4|SMHC|SMMHC

Gene 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. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.11

Description of this Gene: myosin heavy chain 11

Type of Gene: protein-coding

rs267606902 in MYH11 gene and Aortic aneurysm, familial thoracic 4 PMID 17666408 2007 MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.

rs216158 in MYH11 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs730880147 in MYH11 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

rs12923604 in MYH11 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs3915499 in MYH11 gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

PMID 29769521 2018 Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.

rs3915499 in MYH11 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs786205435 in MYH11 gene and Visceral Myopathy PMID 25407000 2015 A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

rs17213965 in MYH11 gene and Waist-Hip Ratio PMID 23966867 2013 Genome-wide association of body fat distribution in African ancestry populations suggests new loci.