Tropomyosin beta chain (TPM2)
The protein contains 284 amino acids for an estimated molecular weight of 32851 Da.
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. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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The reference OMIM entry for this protein is 108120
Arthrogryposis, distal, type 1a; da1a
Arthrogryposis, distal, type 1; da1
Arthrogryposis multiplex congenita, distal, type i; amcd1
A number sign (#) is used with this entry because distal arthrogryposis type 1A (DA1A) is caused by heterozygous mutation in the TPM2 gene (190990) on chromosome 9p13.
DESCRIPTION
The distal arthrogryposes are a group of disorders that mainly involve the distal parts of the limbs. They are characterized by congenital contractures of 2 or more different body areas without a primary neurologic or muscle disease. The prototypic distal arthrogryposis is type 1 (DA1), which 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. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009). There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, 253310). - Genetic Heterogeneity of Distal Arthrogryposes Distal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (614335), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, 193700), caused by mutation in the MYH3 gene (160720) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, 601680), caused by mutation in MYH3, the TNNT3 gene (600692) on chromosome 11p15.5, the TNNI2 gene (191043), also on 11p15.5, or TPM2 (190990) on chromosome 9p13; DA3 (Gordon syndrome, 114300) and DA5 (108145), caused by mutation in the PIEZO2 gene (613629) on chromosome 18p11; DA4 (609128); DA5D (615065), caused by mutation in the ECEL1 gene (605896) on chromosome 2q36; DA6 (108200); DA7 (158300), caused by mutation in the MYH8 gene (160741) on chromosome 17p13.1; DA8 (178110), caused by mutation in the MYH3 gene (160720) on chromosome 17p13; DA9 (121050), caused by mutation in the FBN2 gene (612570) on chromosome 5q23-q31; and DA10 (187370), which maps to chromosome 2q. See 277720 for discussion of a possible autosomal recessive form of DA2A. See 208155 for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.CLINICAL FEATURES
Arthrogryposis is a highly heterogeneous category (Hall et al., 1977). The classic form of peripheral AMC, called amyoplasia by Hall et al. (1977), is always sporadic. An overall recurrence risk of about 5% results from admixture of cases of mendelian types (see 208100, 301830, etc.). The involvement in some persons can be very mild. Lin et al. (1977) and Hall et al. (1982) delineated the distal form of AMC by its autosomal dominant inheritance, intrafamilial variability, involvement primarily of the distal part of the limbs (especially hands and feet), a characteristic position of the hands (medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly), positional foot deformities, and relatively good response to physical therapy. Contractures at other joints are va ... More on the omim web site
Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 108120 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).