TMOD4 (Tropomodulin 4)
Actin-capping protein involved in muscle sarcomere organization
Gene Information Card
| Symbol | TMOD4 |
|---|---|
| Full Name | Tropomodulin 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 29765 ncbi.nlm.nih.gov/gene/29765 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9NZQ9 |
| OMIM ID | 605834 |
| HGNC ID | 11873 |
| Aliases | TMOD, tropomodulin 4 (muscle) |
Description
TMOD4 encodes tropomodulin 4, a member of the tropomodulin family of actin-capping proteins. It binds to the pointed ends of actin filaments, regulating filament length and stability, particularly in striated muscle sarcomeres. TMOD4 is predominantly expressed in skeletal and cardiac muscle, where it contributes to sarcomere organization and muscle contraction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline myopathy | Disruption of actin filament capping leads to abnormal sarcomere assembly and muscle weakness | ClinVar; OMIM |
| Cardiomyopathy | Altered TMOD4 expression may affect cardiac sarcomere integrity | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 22.1 | Medium |
| Esophagus | 6.3 | Low |
| Adipose tissue | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 35.0 | High expression |
| Cardiomyocytes | 18.5 | Moderate expression |
| Fibroblasts | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Predicted loss-of-function variants (e.g., nonsense, frameshift) are associated with nemaline myopathy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects have not been described for TMOD4.
View complete mutation data：
Gene Ontology (GO)
| • actin filament capping | • actin cytoskeleton organization |
| • striated muscle contraction | • actin binding |
| • tropomyosin binding |
Pathways
• Muscle contraction (Reactome: R-HSA-397014)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
Tropomodulin 4 is a 359-amino acid protein that caps the pointed ends of actin filaments, preventing elongation and depolymerization. It interacts with tropomyosin and is essential for maintaining sarcomere length and muscle function. The protein is highly expressed in skeletal and cardiac muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMOD4 Knockout HEK293 Cell Line | EDJ-KQ9044 | Human | 29765 | Details Get a Quote |
| TMOD4 Knockout HCT 116 Cell Line | EDJ-KQ35488 | Human | 29765 | Details Get a Quote |
| TMOD4 Knockout HeLa Cell Line | EDJ-KQ35489 | Human | 29765 | Details Get a Quote |
| TMOD4 Knockout A-549 Cell Line | EDJ-KQ64594 | Human | 29765 | Details Get a Quote |
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