UniProtKB - P07951 (TPM2_HUMAN)
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- BLAST>sp|P07951|TPM2_HUMAN Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKY SESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA DESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSE ERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL
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Protein
Tropomyosin beta chain
Gene
TPM2
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
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
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- actin binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- actin filament binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- structural constituent of muscle Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- actin filament organization Source: GO_Central
- muscle contraction Source: GO_Central
- muscle filament sliding Source: Reactome
- regulation of ATPase activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Actin-binding, Muscle protein |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-390522 Striated Muscle Contraction R-HSA-445355 Smooth Muscle Contraction |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Tropomyosin beta chainAlternative name(s): Beta-tropomyosin Tropomyosin-2 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:TPM2 Synonyms:TMSB |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000198467.13 |
Human Gene Nomenclature Database More...HGNCi | HGNC:12011 TPM2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 190990 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P07951 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
Note: Associates with F-actin stress fibers.By similarity- cytoskeleton By similarity
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
Cytoskeleton
- actin cytoskeleton Source: UniProtKB
- actin filament Source: GO_Central
- muscle thin filament tropomyosin Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
Cytosol
- cytosol Source: Reactome
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cytoplasm, Cytoskeleton<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Nemaline myopathy 4 (NEM4)3 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.14"Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy."
Donner K., Ollikainen M., Ridanpaeae M., Christen H.J., Goebel H.H., de Visser M., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 12:151-158(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NEM4 ALA-117 AND PRO-147. - Ref.16"Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)."
Tajsharghi H., Ohlsson M., Lindberg C., Oldfors A.
Arch. Neurol. 64:1334-1338(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NEM4 LYS-41. - Ref.21"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
Ref.14
"Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy."
Donner K., Ollikainen M., Ridanpaeae M., Christen H.J., Goebel H.H., de Visser M., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 12:151-158(2002) [PubMed] [Europe PMC] [Abstract]
Donner K., Ollikainen M., Ridanpaeae M., Christen H.J., Goebel H.H., de Visser M., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 12:151-158(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NEM4 ALA-117 AND PRO-147.
Ref.16
"Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)."
Tajsharghi H., Ohlsson M., Lindberg C., Oldfors A.
Arch. Neurol. 64:1334-1338(2007) [PubMed] [Europe PMC] [Abstract]
Tajsharghi H., Ohlsson M., Lindberg C., Oldfors A.
Arch. Neurol. 64:1334-1338(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NEM4 LYS-41.
Ref.21
"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609285| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071486 | 3 | A → G in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071487 | 7 | Missing in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071488 | 14 | D → V in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070978 | 41 | E → K in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013468 | 117 | E → A in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071494 | 143 | L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013469 | 147 | Q → P in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071495 | 148 | L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Arthrogryposis, distal, 1A (DA1A)2 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.15"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DA1A GLY-91. - Ref.21"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
Ref.15
"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]
Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DA1A GLY-91.
Ref.21
"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:108120| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016086 | 91 | R → G in DA1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071490 | 93 | Q → R in DA1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071491 | 117 | E → K in DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071498 | 261 | Y → C in DA1A; also found in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Cap myopathy 2 (CAPM2)4 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.18"Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2."
Lehtokari V.L., Ceuterick-de Groote C., de Jonghe P., Marttila M., Laing N.G., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 17:433-442(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CAPM2 GLU-139 DEL. - Ref.19"New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations."
Ohlsson M., Quijano-Roy S., Darin N., Brochier G., Lacene E., Avila-Smirnow D., Fardeau M., Oldfors A., Tajsharghi H.
Neurology 71:1896-1901(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CAPM2 LYS-49 DEL; GLY-52 INS AND LYS-202. - Ref.20"Cap disease due to mutation of the beta-tropomyosin gene (TPM2)."
Clarke N.F., Domazetovska A., Waddell L., Kornberg A., McLean C., North K.N.
Neuromuscul. Disord. 19:348-351(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CAPM2 GLU-139 DEL. - Ref.21"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
Ref.18
"Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2."
Lehtokari V.L., Ceuterick-de Groote C., de Jonghe P., Marttila M., Laing N.G., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 17:433-442(2007) [PubMed] [Europe PMC] [Abstract]
Lehtokari V.L., Ceuterick-de Groote C., de Jonghe P., Marttila M., Laing N.G., Pelin K., Wallgren-Pettersson C.
Neuromuscul. Disord. 17:433-442(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CAPM2 GLU-139 DEL.
Ref.19
"New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations."
Ohlsson M., Quijano-Roy S., Darin N., Brochier G., Lacene E., Avila-Smirnow D., Fardeau M., Oldfors A., Tajsharghi H.
Neurology 71:1896-1901(2008) [PubMed] [Europe PMC] [Abstract]
Ohlsson M., Quijano-Roy S., Darin N., Brochier G., Lacene E., Avila-Smirnow D., Fardeau M., Oldfors A., Tajsharghi H.
Neurology 71:1896-1901(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CAPM2 LYS-49 DEL; GLY-52 INS AND LYS-202.
Ref.20
"Cap disease due to mutation of the beta-tropomyosin gene (TPM2)."
Clarke N.F., Domazetovska A., Waddell L., Kornberg A., McLean C., North K.N.
Neuromuscul. Disord. 19:348-351(2009) [PubMed] [Europe PMC] [Abstract]
Clarke N.F., Domazetovska A., Waddell L., Kornberg A., McLean C., North K.N.
Neuromuscul. Disord. 19:348-351(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CAPM2 GLU-139 DEL.
Ref.21
"Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies."
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Marttila M., Lehtokari V.L., Marston S., Nyman T.A., Barnerias C., Beggs A.H., Bertini E., Ceyhan-Birsoy O., Cintas P., Gerard M., Gilbert-Dussardier B., Hogue J.S., Longman C., Eymard B., Frydman M., Kang P.B., Klinge L., Kolski H. , Lochmueller H., Magy L., Manel V., Mayer M., Mercuri E., North K.N., Peudenier-Robert S., Pihko H., Probst F.J., Reisin R., Stewart W., Taratuto A.L., de Visser M., Wilichowski E., Winer J., Nowak K., Laing N.G., Winder T.L., Monnier N., Clarke N.F., Pelin K., Groenholm M., Wallgren-Pettersson C.
Hum. Mutat. 35:779-790(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609285| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070979 | 49 | Missing in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070980 | 52 | G → GG in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070982 | 139 | Missing in CAPM2; also found in a patient with congenital myopathy with fiber-type disproportion. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070983 | 202 | N → K in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Arthrogryposis, distal, 2B (DA2B)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.17"Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation."
Tajsharghi H., Kimber E., Holmgren D., Tulinius M., Oldfors A.
Neurology 68:772-775(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DA2B TRP-133.
Ref.17
"Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation."
Tajsharghi H., Kimber E., Holmgren D., Tulinius M., Oldfors A.
Neurology 68:772-775(2007) [PubMed] [Europe PMC] [Abstract]
Tajsharghi H., Kimber E., Holmgren D., Tulinius M., Oldfors A.
Neurology 68:772-775(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DA2B TRP-133.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601680| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070981 | 133 | R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutation, Nemaline myopathyOrganism-specific databases
DisGeNET More...DisGeNETi | 7169 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | TPM2 |
MalaCards human disease database More...MalaCardsi | TPM2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 108120 phenotype 601680 phenotype 609285 phenotype |
Open Targets More...OpenTargetsi | ENSG00000198467 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 171881 Cap myopathy 171439 Childhood-onset nemaline myopathy 2020 Congenital fiber-type disproportion myopathy 1146 Digitotalar dysmorphism 1147 Sheldon-Hall syndrome 171436 Typical nemaline myopathy |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA36691 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | TPM2 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 136090 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000205627 | 1 – 284 | Tropomyosin beta chainAdd BLAST | 284 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 1 | N-acetylmethionineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 53 | Phosphothreonine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 61 | Phosphoserine; by PIK3CGBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 79 | Phosphothreonine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 87 | PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 108 | Phosphothreonine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 158 | Phosphoserine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 206 | Phosphoserine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 215 | PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 252 | Phosphothreonine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 261 | PhosphotyrosineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 271 | PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 282 | Phosphothreonine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 283 | Phosphoserine1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).By similarity
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | P07951 |
MaxQB - The MaxQuant DataBase More...MaxQBi | P07951 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P07951 |
PeptideAtlas More...PeptideAtlasi | P07951 |
PRoteomics IDEntifications database More...PRIDEi | P07951 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 52049 52050 [P07951-2] 52051 [P07951-3] |
2D gel databases
DOSAC-COBS 2D-PAGE database More...DOSAC-COBS-2DPAGEi | P07951 |
REPRODUCTION-2DPAGE More...REPRODUCTION-2DPAGEi | IPI00220709 |
University College Dublin 2-DE Proteome Database More...UCD-2DPAGEi | P07951 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P07951 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P07951 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Present in primary breast cancer tissue, absent from normal breast tissue.1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.10"Protein content study revealed the presence of isoform 2 of beta-tropomyosin in primary breast cancer tissues from Sudanese patients."
Ahamed M.E., Mohamed A.O., Ahmed M.E., Sirinuch B., Surasak J.
Sudan J. Med. Sci. 2:183-187(2007)
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000198467 |
CleanEx database of gene expression profiles More...CleanExi | HS_TPM2 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P07951 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P07951 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA009066 HPA047089 HPA053624 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
Homodimer. Heterodimer of an alpha (TPM1, TPM3 or TPM4) and a beta (TPM2) chain.By similarity
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- actin binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- actin filament binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 113022, 131 interactors |
Protein interaction database and analysis system More...IntActi | P07951, 46 interactors |
Molecular INTeraction database More...MINTi | P07951 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000354219 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P07951 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P07951 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Coiled coil
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili | 1 – 284 | By similarityAdd BLAST | 284 |
<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini
The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Belongs to the tropomyosin family.Curated
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Coiled coilPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG1003 Eukaryota ENOG410XR5K LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00550000074494 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG107404 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P07951 |
KEGG Orthology (KO) More...KOi | K10374 |
Identification of Orthologs from Complete Genome Data More...OMAi | AVLESKF |
Database for complete collections of gene phylogenies More...PhylomeDBi | P07951 |
TreeFam database of animal gene trees More...TreeFami | TF351519 |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000533 Tropomyosin |
Pfam protein domain database More...Pfami | View protein in Pfam PF00261 Tropomyosin, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00194 TROPOMYOSIN |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00326 TROPOMYOSIN, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
Isoform 1 (identifier: P07951-1) [UniParc]FASTAAdd to basketAdded to basketShow »
Also known as: Skeletal muscle
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MDAIKKKMQM LKLDKENAID RAEQAEADKK QAEDRCKQLE EEQQALQKKL
60 70 80 90 100
KGTEDEVEKY SESVKEAQEK LEQAEKKATD AEADVASLNR RIQLVEEELD
110 120 130 140 150
RAQERLATAL QKLEEAEKAA DESERGMKVI ENRAMKDEEK MELQEMQLKE
160 170 180 190 200
AKHIAEDSDR KYEEVARKLV ILEGELERSE ERAEVAESKC GDLEEELKIV
210 220 230 240 250
TNNLKSLEAQ ADKYSTKEDK YEEEIKLLEE KLKEAETRAE FAERSVAKLE
260 270 280
KTIDDLEDEV YAQKMKYKAI SEELDNALND ITSL
Length:284
Mass (Da):32,851
Last modified:August 1, 1988 - v1
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i18E330568E14E0BE
Isoform 2 (identifier: P07951-2) [UniParc]FASTAAdd to basketAdded to basketShow »
Also known as: non-muscle, Fibroblast TM36, Epithelial TMe1
The sequence of this isoform differs from the canonical sequence as follows:
189-213: KCGDLEEELKIVTNNLKSLEAQADK → RARQLEEELRTMDQALKSLMASEEE
258-284: DEVYAQKMKYKAISEELDNALNDITSL → ETLASAKEENVEIHQTLDQTLLELNNL
10 20 30 40 50
MDAIKKKMQM LKLDKENAID RAEQAEADKK QAEDRCKQLE EEQQALQKKL
60 70 80 90 100
KGTEDEVEKY SESVKEAQEK LEQAEKKATD AEADVASLNR RIQLVEEELD
110 120 130 140 150
RAQERLATAL QKLEEAEKAA DESERGMKVI ENRAMKDEEK MELQEMQLKE
160 170 180 190 200
AKHIAEDSDR KYEEVARKLV ILEGELERSE ERAEVAESRA RQLEEELRTM
210 220 230 240 250
DQALKSLMAS EEEYSTKEDK YEEEIKLLEE KLKEAETRAE FAERSVAKLE
260 270 280
KTIDDLEETL ASAKEENVEI HQTLDQTLLE LNNL
Length:284
Mass (Da):32,990
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i584D60A8A4D6E9CA
Isoform 3 (identifier: P07951-3) [UniParc]FASTAAdd to basketAdded to basketShow »
Also known as: non-muscle
The sequence of this isoform differs from the canonical sequence as follows:
1-80: MDAIKKKMQM...LEQAEKKATD → MAGISSIDAV...ADAERQARER
189-213: KCGDLEEELKIVTNNLKSLEAQADK → RARQLEEELRTMDQALKSLMASEEE
258-284: DEVYAQKMKYKAISEELDNALNDITSL → ETLASAKEENVEIHQTLDQTLLELNNL
10 20 30 40 50
MAGISSIDAV KKKIQSLQQV ADEAEERAEH LQREADAERQ ARERAEADVA
60 70 80 90 100
SLNRRIQLVE EELDRAQERL ATALQKLEEA EKAADESERG MKVIENRAMK
110 120 130 140 150
DEEKMELQEM QLKEAKHIAE DSDRKYEEVA RKLVILEGEL ERSEERAEVA
160 170 180 190 200
ESRARQLEEE LRTMDQALKS LMASEEEYST KEDKYEEEIK LLEEKLKEAE
210 220 230 240
TRAEFAERSV AKLEKTIDDL EETLASAKEE NVEIHQTLDQ TLLELNNL
Length:248
Mass (Da):28,684
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iD89A89A37CF9D026
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 89 | N → S in BAD96978 (Ref. 4) Curated | 1 |
<p>This subsection of the ‘Sequence’ section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi
Isoform 1 : Molecular mass is 32850.73 Da from positions 1 - 284. Determined by MALDI. 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"Cluster analysis of an extensive human breast cancer cell line protein expression map database."
Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J.
Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]Cited for: MASS SPECTROMETRY.
Isoform 2 : Molecular mass is 32989.81 Da from positions 1 - 284. Determined by MALDI. 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"Cluster analysis of an extensive human breast cancer cell line protein expression map database."
Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J.
Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]Cited for: MASS SPECTROMETRY.
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071485 | 2 | D → V Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071486 | 3 | A → G in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071487 | 7 | Missing in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071488 | 14 | D → V in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070978 | 41 | E → K in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070979 | 49 | Missing in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070980 | 52 | G → GG in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016086 | 91 | R → G in DA1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071489 | 93 | Q → H Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071490 | 93 | Q → R in DA1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013468 | 117 | E → A in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071491 | 117 | E → K in DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071492 | 128 | K → E Probable disease-associated mutation found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071493 | 133 | R → P Probable disease-associated mutation found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070981 | 133 | R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070982 | 139 | Missing in CAPM2; also found in a patient with congenital myopathy with fiber-type disproportion. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071494 | 143 | L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013469 | 147 | Q → P in NEM4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071495 | 148 | L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071496 | 155 | A → T Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070983 | 202 | N → K in CAPM2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071497 | 218 | Missing Probable disease-associated mutation in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071498 | 261 | Y → C in DA1A; also found in patients with undefined congenital myopathy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052402 | 273 | E → K. Corresponds to variant dbSNP:rs3180843Ensembl. | 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006594 | 1 – 80 | MDAIK…KKATD → MAGISSIDAVKKKIQSLQQV ADEAEERAEHLQREADAERQ ARER in isoform 3. CuratedAdd BLAST | 80 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006595 | 189 – 213 | KCGDL…AQADK → RARQLEEELRTMDQALKSLM ASEEE in isoform 2 and isoform 3. 4 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 25 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006596 | 258 – 284 | DEVYA…DITSL → ETLASAKEENVEIHQTLDQT LLELNNL in isoform 2 and isoform 3. 4 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 27 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M12126 mRNA Translation: AAA61229.1 M12125 mRNA Translation: AAA36773.1 X06825 mRNA Translation: CAA29971.1 M75165 mRNA Translation: AAB59509.1 M74817 mRNA Translation: AAA61230.1 AK223258 mRNA Translation: BAD96978.1 AL133410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58354.1 BC011776 mRNA Translation: AAH11776.1 AF209746 Genomic DNA Translation: AAF17621.1 J05247 Genomic DNA Translation: AAA51842.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS6586.1 [P07951-2] CCDS6587.1 [P07951-1] |
Protein sequence database of the Protein Information Resource More...PIRi | A23562 S00922 |
NCBI Reference Sequences More...RefSeqi | NP_003280.2, NM_003289.3 [P07951-1] NP_998839.1, NM_213674.1 [P07951-2] XP_016870580.1, XM_017015091.1 [P07951-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.300772 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000360958; ENSP00000354219; ENSG00000198467 [P07951-1] ENST00000378292; ENSP00000367542; ENSG00000198467 [P07951-2] ENST00000378300; ENSP00000367550; ENSG00000198467 [P07951-2] ENST00000645482; ENSP00000496494; ENSG00000198467 [P07951-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 7169 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:7169 |
UCSC genome browser More...UCSCi | uc003zxs.4 human [P07951-1] |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P07951 | Tropomyosin 2 | 284 | |||
| TPM2 isoform 3 | 284 | ||||
| Tropomyosin beta chain isoform 1 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| +14 | |||||
| P07951-2 | Epididymis secretory protein Li 273 | 284 | |||
| TPM2 isoform 1 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| TPM2 isoform 1 | 284 | ||||
| +13 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P07951 | Tropomyosin 2 | 284 | |||
| TPM2 isoform 3 | 284 | ||||
| Tropomyosin beta chain isoform 1 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| Tropomyosin 2 | 284 | ||||
| +98 | |||||
| P07951-2 | Tropomyosin 2 | 284 | |||
| UPI0008DB5997 | 158 | ||||
| Tropomyosin beta chain isoform B | 339 | ||||
| Beta-tropomyosin | 287 | ||||
| Tropomyosin-1 | 285 | ||||
| +72 | |||||
| P07951-3 | Putative tropomyosin 4 variant 1 | 248 | |||
| Beta-tropomyosin | 248 | ||||
| Uncharacterized protein | 248 | ||||
| UPI0003831A78 | 248 | ||||
| UPI0003959376 | 248 | ||||
| +26 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P07951 | Tropomyosin alpha-3 chain | 285 | |||
| TPM3 isoform 2 | 285 | ||||
| Tropomyosin alpha-3 chain | 285 | ||||
| Tropomyosin 3 | 285 | ||||
| Tropomyosin 3 | 285 | ||||
| +1103 | |||||
| P07951-3 | UPI000B4C4137 | 248 | |||
| UPI00071C4CBA | 248 | ||||
| UPI0003EA8F00 | 248 | ||||
| UPI00081A24BC | 248 | ||||
| Beta-tropomyosin | 248 | ||||
| +392 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M12126 mRNA Translation: AAA61229.1 M12125 mRNA Translation: AAA36773.1 X06825 mRNA Translation: CAA29971.1 M75165 mRNA Translation: AAB59509.1 M74817 mRNA Translation: AAA61230.1 AK223258 mRNA Translation: BAD96978.1 AL133410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58354.1 BC011776 mRNA Translation: AAH11776.1 AF209746 Genomic DNA Translation: AAF17621.1 J05247 Genomic DNA Translation: AAA51842.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS6586.1 [P07951-2] CCDS6587.1 [P07951-1] |
Protein sequence database of the Protein Information Resource More...PIRi | A23562 S00922 |
NCBI Reference Sequences More...RefSeqi | NP_003280.2, NM_003289.3 [P07951-1] NP_998839.1, NM_213674.1 [P07951-2] XP_016870580.1, XM_017015091.1 [P07951-1] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.300772 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P07951 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P07951 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 113022, 131 interactors |
Protein interaction database and analysis system More...IntActi | P07951, 46 interactors |
Molecular INTeraction database More...MINTi | P07951 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000354219 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P07951 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P07951 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | TPM2 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 136090 |
2D gel databases
DOSAC-COBS 2D-PAGE database More...DOSAC-COBS-2DPAGEi | P07951 |
REPRODUCTION-2DPAGE More...REPRODUCTION-2DPAGEi | IPI00220709 |
University College Dublin 2-DE Proteome Database More...UCD-2DPAGEi | P07951 |
Proteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | P07951 |
MaxQB - The MaxQuant DataBase More...MaxQBi | P07951 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P07951 |
PeptideAtlas More...PeptideAtlasi | P07951 |
PRoteomics IDEntifications database More...PRIDEi | P07951 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 52049 52050 [P07951-2] 52051 [P07951-3] |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 7169 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000360958; ENSP00000354219; ENSG00000198467 [P07951-1] ENST00000378292; ENSP00000367542; ENSG00000198467 [P07951-2] ENST00000378300; ENSP00000367550; ENSG00000198467 [P07951-2] ENST00000645482; ENSP00000496494; ENSG00000198467 [P07951-1] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 7169 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:7169 |
UCSC genome browser More...UCSCi | uc003zxs.4 human [P07951-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 7169 |
DisGeNET More...DisGeNETi | 7169 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000198467.13 |
GeneCards: human genes, protein and diseases More...GeneCardsi | TPM2 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | TPM2 |
Human Gene Nomenclature Database More...HGNCi | HGNC:12011 TPM2 |
Human Protein Atlas More...HPAi | HPA009066 HPA047089 HPA053624 |
MalaCards human disease database More...MalaCardsi | TPM2 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 108120 phenotype 190990 gene 601680 phenotype 609285 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P07951 |
Open Targets More...OpenTargetsi | ENSG00000198467 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 171881 Cap myopathy 171439 Childhood-onset nemaline myopathy 2020 Congenital fiber-type disproportion myopathy 1146 Digitotalar dysmorphism 1147 Sheldon-Hall syndrome 171436 Typical nemaline myopathy |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA36691 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG1003 Eukaryota ENOG410XR5K LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00550000074494 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG107404 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P07951 |
KEGG Orthology (KO) More...KOi | K10374 |
Identification of Orthologs from Complete Genome Data More...OMAi | AVLESKF |
Database for complete collections of gene phylogenies More...PhylomeDBi | P07951 |
TreeFam database of animal gene trees More...TreeFami | TF351519 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-390522 Striated Muscle Contraction R-HSA-445355 Smooth Muscle Contraction |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | TPM2 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | TPM2 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 7169 |
Protein Ontology More...PROi | PR:P07951 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000198467 |
CleanEx database of gene expression profiles More...CleanExi | HS_TPM2 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P07951 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P07951 HS |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000533 Tropomyosin |
Pfam protein domain database More...Pfami | View protein in Pfam PF00261 Tropomyosin, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00194 TROPOMYOSIN |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00326 TROPOMYOSIN, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | TPM2_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | P07951Primary (citable) accession number: P07951 Secondary accession number(s): A6NM85 , P06468, Q13894, Q53FM4, Q5TCU4, Q5TCU7, Q9UH67 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1988 |
| Last sequence update: | August 1, 1988 | |
| Last modified: | July 18, 2018 | |
| This is version 189 of the entry and version 1 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
