FMNL2 Gene - Formin-like 2
Key regulator of actin cytoskeleton dynamics and cell motility
Gene Information Card
| Symbol | FMNL2 |
|---|---|
| Full Name | Formin-like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.3 |
| NCBI Gene ID | 114793 ncbi.nlm.nih.gov/gene/114793 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q96PY5 |
| OMIM ID | 616285 |
| HGNC ID | 18267 |
| Aliases | FHOD2, KIAA1902, FLJ10853 |
Description
FMNL2 (formin-like 2) encodes a member of the formin family of proteins that regulate actin polymerization and cytoskeletal reorganization. It is involved in cell migration, adhesion, and vesicle trafficking. FMNL2 is overexpressed in several cancers and promotes invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression enhances actin dynamics and cell motility, promoting invasion and metastasis. | PMID: 20628086 |
| Gastric cancer | Upregulation correlates with poor prognosis; FMNL2 drives epithelial-mesenchymal transition (EMT). | PMID: 25695633 |
| Hepatocellular carcinoma | Increased expression linked to tumor progression and metastasis via Rho signaling. | PMID: 26908326 |
| Breast cancer | FMNL2 promotes migration and invasion through actin remodeling. | PMID: 29162811 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Colon | 15.2 | Medium |
| Stomach | 18.7 | Medium |
| Breast | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HCT116 | 22.5 | Colorectal carcinoma cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| A549 | 9.6 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Predicted loss of function |
| c.2345G>A (p.Arg782His) | Missense | <0.1% | Reported in COSMIC; potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
Missense mutations in the FH2 domain may enhance actin polymerization activity, contributing to oncogenic transformation.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FMNL2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (R-HSA-194840)
• Signaling by Rho family GTPases (R-HSA-194315)
• Actin nucleation by ARP2/3 complex (R-HSA-5663222)
Protein Summary
FMNL2 is a 1090-amino acid protein containing a formin homology 2 (FH2) domain that nucleates actin filaments and a diaphanous autoregulatory domain (DAD). It localizes to the leading edge of migrating cells and regulates lamellipodia formation. FMNL2 interacts with Rho GTPases and is implicated in cancer cell invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMNL2 Knockout HEK293 Cell Line | EDJ-KQ7468 | Human | 114793 | Details Get a Quote |
| FMNL2 Knockout A-549 Cell Line | EDJ-KQ32687 | Human | 114793 | Details Get a Quote |
| FMNL2 Knockout HCT 116 Cell Line | EDJ-KQ32688 | Human | 114793 | Details Get a Quote |
| FMNL2 Knockout HeLa Cell Line | EDJ-KQ32689 | Human | 114793 | Details Get a Quote |
