TPM4 Gene - Tropomyosin 4
Key regulator of actin filament stability and cellular contractility
Gene Information Card
| Symbol | TPM4 |
|---|---|
| Full Name | Tropomyosin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 7171 ncbi.nlm.nih.gov/gene/7171 |
| Ensembl ID | ENSG00000167460 |
| UniProt ID | P67936 |
| OMIM ID | 191170 |
| HGNC ID | 12013 |
| Aliases | TM4, tropomyosin-4, TM30p1 |
Description
TPM4 encodes tropomyosin 4, a member of the tropomyosin family of actin-binding proteins. Tropomyosins are coiled-coil dimers that polymerize along the actin filament, stabilizing it and regulating access of other actin-binding proteins. TPM4 is widely expressed and plays critical roles in cell motility, contractility, and cytoskeletal organization. Mutations and altered expression of TPM4 are associated with various cancers and cardiovascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of TPM4 promotes cell migration and invasion via enhanced actin dynamics | COSMIC; PMID: 25691885 |
| Colorectal cancer | TPM4 upregulation correlates with poor prognosis and metastatic potential | COSMIC; PMID: 28723891 |
| Dilated cardiomyopathy | Missense mutations in TPM4 disrupt actin binding and sarcomere function | ClinVar; PMID: 27532257 |
| Essential thrombocythemia | TPM4 rearrangements (e.g., TPM4-PDGFRB) lead to constitutive kinase activation | COSMIC; PMID: 16945125 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Brain | 12.3 | Medium |
| Liver | 8.1 | Low |
| Kidney | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer cell line |
| MCF7 | 28.9 | Breast cancer cell line |
| HepG2 | 18.2 | Hepatocellular carcinoma cell line |
| A549 | 22.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574G>A (p.Glu192Lys) | Missense | Rare | Alters actin-binding affinity; associated with dilated cardiomyopathy |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; reported in cancer |
| TPM4-PDGFRB fusion | Gene fusion | Rare | Constitutive PDGFRB activation; drives myeloproliferative neoplasm |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations and truncations that abolish TPM4 expression or actin binding.
Gain of Function (GOF)
Gene fusions (e.g., TPM4-PDGFRB) that create constitutively active kinases.
Dominant Negative (DN)
Missense mutations (e.g., Glu192Lys) that disrupt filament assembly and impair sarcomere function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • structural constituent of cytoskeleton (GO:0005200) |
| • muscle contraction (GO:0006936) | • muscle filament sliding (GO:0030049) |
| • actin filament binding (GO:0051015) |
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663213)
• Muscle contraction (Reactome: R-HSA-397014)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
Tropomyosin 4 is a 248-amino acid protein that forms parallel coiled-coil dimers. It binds along the major groove of actin filaments, stabilizing them and modulating interactions with myosin and other actin-binding proteins. TPM4 is essential for maintaining cytoskeletal integrity in muscle and non-muscle cells. Alternative splicing generates multiple isoforms with tissue-specific functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPM4 Knockout HEK293 Cell Line | EDJ-KQ2908 | Human | 7171 | Details Get a Quote |
| TPM4 Knockout A-549 Cell Line | EDJ-KQ23993 | Human | 7171 | Details Get a Quote |
| TPM4 Knockout HCT 116 Cell Line | EDJ-KQ23994 | Human | 7171 | Details Get a Quote |
| TPM4 Knockout HeLa Cell Line | EDJ-KQ23995 | Human | 7171 | Details Get a Quote |
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