FMN2 (Formin 2) Gene
Key Regulator of Actin Cytoskeleton Dynamics and Female Meiosis
Gene Information Card
| Symbol | FMN2 |
|---|---|
| Full Name | Formin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 56776 ncbi.nlm.nih.gov/gene/56776 |
| Ensembl ID | ENSG00000155858 |
| UniProt ID | Q9NZ56 |
| OMIM ID | 606373 |
| HGNC ID | 14074 |
| Aliases | FHOS2, KIAA1018 |
Description
FMN2 encodes formin 2, a member of the formin family of actin-nucleating proteins. It is essential for actin filament assembly, particularly during oocyte meiotic maturation, where it regulates spindle positioning and asymmetric cell division. FMN2 is also involved in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to oocyte maturation arrest | Loss of FMN2 function disrupts actin-mediated spindle migration, causing meiotic arrest | OMIM #606373; PMID: 18614019 |
| Primary ovarian insufficiency | Biallelic FMN2 mutations impair oocyte development and folliculogenesis | ClinVar; PMID: 24784882 |
| Neurodevelopmental disorders | FMN2 variants may affect dendritic spine morphology and synaptic plasticity | PMID: 25644360 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.3 | Medium |
| Testis | 8.7 | Low |
| Brain (cerebral cortex) | 6.2 | Low |
| Heart | 3.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.5 | Low expression |
| K562 | 2.1 | Not detected |
| SH-SY5Y | 7.8 | Moderate expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, loss of actin-nucleation domain |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function, associated with oocyte arrest |
| c.2101G>A (p.Gly701Arg) | Missense | 0.02% | Impaired FH2 domain, reduced actin polymerization |
Mutation functional classification
Loss of Function (LOF)
Biallelic truncating or frameshift mutations cause complete loss of actin-nucleation activity, leading to meiotic arrest and female infertility.
Gain of Function (GOF)
Not reported for FMN2.
Dominant Negative (DN)
Heterozygous missense variants in the FH2 domain may interfere with wild-type formin 2 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • plasma membrane (GO:0005886) |
| • lamellipodium (GO:0030027) | • actin cortical patch (GO:0030479) |
| • actin filament bundle assembly (GO:0051017) | • spermatogenesis (GO:0007283) |
| • oocyte maturation (GO:0001556) |
Pathways
• Actin nucleation by formins (R-HSA-5663222)
• RHO GTPase cycle (R-HSA-194840)
• Oocyte meiosis (R-HSA-1500620)
Protein Summary
Formin 2 is a 1,200-amino-acid protein containing a formin homology 2 (FH2) domain that nucleates unbranched actin filaments, and an FH1 domain that recruits profilin-actin complexes. It localizes to the cell cortex and is critical for asymmetric spindle positioning during oocyte meiosis. In neurons, FMN2 regulates dendritic spine formation and synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FMN2 Knockout HEK293 Cell Line | EDJ-KQ13493 | Human | 56776 | Details Get a Quote |
| FMN2 Knockout A-549 Cell Line | EDJ-KQ43099 | Human | 56776 | Details Get a Quote |
| FMN2 Knockout HeLa Cell Line | EDJ-KQ43100 | Human | 56776 | Details Get a Quote |
| FMN2 Knockout HCT 116 Cell Line | EDJ-KQ73698 | Human | 56776 | Details Get a Quote |
