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MGP003182

UniProt Annotations

Entry Information
Gene Nametropomyosin 2 (beta)
Protein Entry
UniProt IDQ5TCU3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Skeletal muscle; IsoId=P07951-1; Sequence=Displayed; Name=2; Synonyms=non-muscle, Fibroblast TM36, Epithelial TMe1; IsoId=P07951-2; Sequence=VSP_006595, VSP_006596; Name=3; Synonyms=non-muscle; IsoId=P07951-3; Sequence=VSP_006594, VSP_006595, VSP_006596;
DiseaseArthrogryposis, distal, 1A (DA1A) [MIM:108120]: 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. {ECO:0000269|PubMed:12592607, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseArthrogryposis, distal, 2B (DA2B) [MIM:601680]: 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. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269|PubMed:17339586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCap myopathy 2 (CAPM2) [MIM:609285]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non- progressive or slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269|PubMed:17434307, ECO:0000269|PubMed:19047562, ECO:0000269|PubMed:19345583, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNemaline myopathy 4 (NEM4) [MIM:609285]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life. {ECO:0000269|PubMed:11738357, ECO:0000269|PubMed:17846275, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven- residues periodicity.
FunctionBinds 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 (By similarity). {ECO:0000250}.
Mass SpectrometryMass=32850.73; Method=MALDI; Range=1-284 (P07951-1); Evidence={ECO:0000269|PubMed:11840567};
Mass SpectrometryMass=32989.81; Method=MALDI; Range=1-284 (P07951-2); Evidence={ECO:0000269|PubMed:11840567};
PtmPhosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity). {ECO:0000250}.
SimilarityBelongs to the tropomyosin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton.
SubunitHeterodimer of an alpha and a beta chain.
Tissue SpecificityPresent in primary breast cancer tissue, absent from normal breast tissue. {ECO:0000269|Ref.10}.
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