Aliases for TPM2 Gene
External Ids for TPM2 Gene
Previous HGNC Symbols for TPM2 Gene
Previous GeneCards Identifiers for TPM2 Gene
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
GeneCards Summary for TPM2 Gene
TPM2 (Tropomyosin 2) is a Protein Coding gene. Diseases associated with TPM2 include Nemaline Myopathy 4 and Arthrogryposis, Distal, Type 1A. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is TPM3.
UniProtKB/Swiss-Prot Summary for TPM2 Gene
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.