TMOD2: Tropomodulin 2
A key regulator of actin filament dynamics in neurons and muscle cells
Gene Information Card
| Symbol | TMOD2 |
|---|---|
| Full Name | tropomodulin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 29767 ncbi.nlm.nih.gov/gene/29767 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NZR1 |
| OMIM ID | 605834 |
| HGNC ID | 11873 |
| Aliases | N-Tmod, Tmod2, neuronal tropomodulin |
Description
TMOD2 (tropomodulin 2) encodes a member of the tropomodulin family of actin-capping proteins. It binds to the pointed ends of actin filaments, regulating filament length and dynamics. TMOD2 is predominantly expressed in neurons and muscle tissues, playing a critical role in cytoskeletal organization, neurite outgrowth, and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of actin dynamics in neurons affecting synaptic plasticity and dendritic spine morphology | Limited; case reports and functional studies suggest association (PMID: 25457165) |
| Autism spectrum disorder | Altered neuronal actin regulation may contribute to synaptic dysfunction | Preliminary genetic association studies (PMID: 26048034) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 6.7 | Low |
| Testis | 4.2 | Low |
| Lung | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial origin |
| HeLa (cervical carcinoma) | 2.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148Trp) | Missense | Rare | Unknown functional impact |
| c.1015G>A (p.Gly339Ser) | Missense | Rare | Predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • actin filament capping | • actin cytoskeleton organization |
| • regulation of actin filament length | • neuronal development |
| • synaptic plasticity |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Axon guidance (KEGG: hsa04360)
Protein Summary
Tropomodulin 2 (TMOD2) is a 39 kDa protein that caps the pointed ends of actin filaments, preventing elongation and depolymerization. It is highly expressed in the brain and heart, where it regulates actin dynamics essential for neuronal morphogenesis, synaptic function, and muscle contractility. Structural studies show a conserved tropomodulin fold with an N-terminal actin-binding region and a C-terminal tropomyosin-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMOD2 Knockout HEK293 Cell Line | EDJ-KQ8287 | Human | 29767 | Details Get a Quote |
| TMOD2 Knockout A-549 Cell Line | EDJ-KQ35492 | Human | 29767 | Details Get a Quote |
| TMOD2 Knockout HCT 116 Cell Line | EDJ-KQ35494 | Human | 29767 | Details Get a Quote |
| TMOD2 Knockout HeLa Cell Line | EDJ-KQ35495 | Human | 29767 | Details Get a Quote |
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