InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TPM2

Summary

InnateDB Protein

IDBP-63182.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TPM2

Protein Name

tropomyosin 2 (beta)

Synonyms

AMCD1; DA1; DA2B; HEL-S-273; NEM4; TMSB;

Species

Homo sapiens

Ensembl Protein

ENSP00000367542

InnateDB Gene

IDBG-63176 (TPM2)

Protein Structure

UniProt Annotation

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 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Nemaline 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:0000269PubMed:11738357, ECO:0000269PubMed:17846275}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arthrogryposis, 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:0000269PubMed:12592607}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cap 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:0000269PubMed:17434307, ECO:0000269PubMed:19047562, ECO:0000269PubMed:19345583}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arthrogryposis, 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:0000269PubMed:17339586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Present in primary breast cancer tissue, absent from normal breast tissue. {ECO:0000269Ref.10}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.