SYNM Gene - Synemin: Function, Expression, and Disease Associations

The SYNM gene encodes synemin, a large intermediate filament protein that is a component of the cytoskeleton. Synemin is expressed primarily in muscle tissues (skeletal, cardiac, and smooth muscle) and in certain other cell types. It interacts with other intermediate filament proteins such as desmin and vimentin, and with Z-disc proteins, contributing to the structural integrity and mechanical stability of muscle cells. Synemin also plays roles in cell signaling, adhesion, and migration. Mutations and altered expression of SYNM have been associated with myopathies and various cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Intermediate filament organization

• Muscle contraction

• Cell adhesion (ECM-receptor interaction)

Synemin is a 160-180 kDa intermediate filament protein that forms heteropolymers with desmin and vimentin. It contains a central alpha-helical rod domain and non-helical head and tail domains. Synemin localizes to Z-discs in striated muscle and dense bodies in smooth muscle, where it links the contractile apparatus to the cytoskeleton. It also interacts with signaling molecules such as alpha-actinin and vinculin, influencing cell adhesion and migration. Post-translational modifications include phosphorylation, which regulates filament dynamics.