TWF2 (Twinfilin Actin Binding Protein 2)
A key regulator of actin dynamics, implicated in cytoskeletal organization and cancer progression.
Gene Information Card
| Symbol | TWF2 |
|---|---|
| Full Name | Twinfilin Actin Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 11344 ncbi.nlm.nih.gov/gene/11344 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q9Y5H6 |
| OMIM ID | 607238 |
| HGNC ID | 9620 |
| Aliases | PTK9L, A6RP, twinfilin-2 |
Description
TWF2 encodes twinfilin-2, a conserved actin-binding protein that regulates actin dynamics by sequestering actin monomers and capping actin filament barbed ends. It plays a role in cell motility, morphogenesis, and cytoskeletal organization. TWF2 is expressed in multiple tissues and is implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TWF2 expression affects actin turnover, promoting cell migration and invasion. | COSMIC; literature |
| Developmental disorders | Mutations in TWF2 may disrupt cytoskeletal dynamics during embryogenesis. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | Medium |
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.2 | Medium |
| Testis | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.6 | Cervical cancer cell line |
| A549 | 11.2 | Lung cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.314A>G (p.His105Arg) | Missense | <0.1% | Altered actin binding affinity |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown functional effect |
| c.602_603insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, reducing actin monomer sequestration.
Gain of Function (GOF)
Not well documented; some missense variants may enhance actin binding.
Dominant Negative (DN)
Not reported for TWF2.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin filament barbed-end capping (GO:0051015) |
| • actin filament polymerization (GO:0030041) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Rho GTPase cycle (Reactome: R-HSA-194840)
Protein Summary
Twinfilin-2 is a 39 kDa protein containing an N-terminal actin-depolymerizing factor homology domain and a C-terminal actin-binding domain. It binds G-actin with high affinity and caps actin filament barbed ends, regulating actin dynamics. The protein is widely expressed and localizes to the cytoplasm and cytoskeleton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TWF2 Knockout HEK293 Cell Line | EDJ-KQ3134 | Human | 11344 | Details Get a Quote |
| TWF2 Knockout A-549 Cell Line | EDJ-KQ24510 | Human | 11344 | Details Get a Quote |
| TWF2 Knockout HCT 116 Cell Line | EDJ-KQ24511 | Human | 11344 | Details Get a Quote |
| TWF2 Knockout HeLa Cell Line | EDJ-KQ24512 | Human | 11344 | Details Get a Quote |
