GENE REFERENCE / HGNC:7569

MYH11

myosin heavy chain 11

protein-coding gene16p13.11Gene information

What does this gene do?

The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. It belongs to a group of proteins called myosins, which are involved in cell movement and the transport of materials within and between cells. Thick filaments made of myosin, along with thin filaments of another protein called actin, are the primary components of muscle fibers and are important for muscle tensing (contraction). Smooth muscle myosin heavy chain 11 forms part of a myosin protein complex found in smooth muscles. Smooth muscles are the muscles that line the internal organs of the body, including the blood vessels, stomach, and intestines; as part of their normal function in the body, these muscles contract and relax involuntarily.

Each myosin protein complex consists of two pairs of light chains, which regulate the complex and are produced from several other genes, and two heavy chains such as that produced from the MYH11 gene. The heavy chains each have two parts: a head region and a tail region. The head region interacts with actin and includes a segment that attaches (binds) to ATP. ATP is a molecule that supplies energy for the cells' activities, including muscle contraction. The long tail region of the myosin heavy chain interacts with other proteins, including the tail regions of other myosins, enabling them to form thick filaments.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-11.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
familial thoracic aortic aneurysm and aortic dissectionMONDO:0019625 · Evaluated 2016-07-03	Autosomal dominant	DefinitiveHeritable Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel
congenital heart diseaseMONDO:0005453 · Evaluated 2024-10-15	Autosomal dominant	LimitedCongenital Heart Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 4,742
Submissions for variants in or overlapping this gene: 11,068
Submissions explicitly reporting this gene: 10,605
Alleles reported pathogenic / likely pathogenic: 94
VariationIDs with uncertain significance: 2,332
VariationIDs with conflicting classifications: 283

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MYH11?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 94 alleles in MYH11 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MYH11.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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