TPM2
Domain
The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
Function
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization.
Involvement in disease
Congenital myopathy 23
CMYO23
An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins.
None
The disease is caused by variants affecting the gene represented in this entry.
Arthrogryposis, distal, 1A
DA1A
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.
None
The disease is caused by variants affecting the gene represented in this entry.
Arthrogryposis, distal, 2B4
DA2B4
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).
Sequence Similarities
Belongs to the tropomyosin family.
Tissue Specificity
Present in primary breast cancer tissue, absent from normal breast tissue.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Associates with F-actin stress fibers.
Alternative names
TMSB, TPM2, Tropomyosin beta chain, Beta-tropomyosin, Tropomyosin-2