PFN2 Gene - Profilin 2
Comprehensive guide to PFN2: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | PFN2 |
|---|---|
| Full Name | Profilin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 5217 ncbi.nlm.nih.gov/gene/5217 |
| Ensembl ID | ENSG00000170089 |
| UniProt ID | P35080 |
| OMIM ID | 176590 |
| HGNC ID | 8882 |
| Aliases | PROFILIN2, profilin II |
Description
PFN2 encodes profilin 2, a small actin-binding protein that regulates actin polymerization dynamics. It is predominantly expressed in the nervous system and plays a critical role in synaptic plasticity, neurite outgrowth, and cytoskeletal remodeling. PFN2 interacts with polyproline ligands and phosphoinositides, modulating actin filament assembly and cell motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Dysregulation of profilin 2 alters actin dynamics in motor neurons, contributing to neurodegeneration. | PMID: 25803835; ClinVar |
| Autism spectrum disorder (ASD) | PFN2 mutations impair synaptic actin remodeling, affecting neuronal connectivity. | PMID: 27569545; ClinVar |
| Breast cancer | Overexpression of PFN2 promotes cell migration and invasion via enhanced actin turnover. | PMID: 25605274; COSMIC |
| Prostate cancer | PFN2 upregulation correlates with metastatic potential and poor prognosis. | PMID: 29367642; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Spinal cord | 10.8 | Medium |
| Testis | 8.2 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.0 | Neuronal model |
| HeLa (cervical carcinoma) | 6.5 | Epithelial |
| MCF7 (breast cancer) | 9.8 | Luminal A |
| PC3 (prostate cancer) | 11.2 | Metastatic |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301G>A (p.Glu101Lys) | Missense | 0.001% (gnomAD) | Alters actin binding affinity; associated with ASD |
| c.458C>T (p.Thr153Met) | Missense | 0.002% (gnomAD) | Reduced polyproline interaction; linked to ALS |
| c.67_69del (p.Glu23del) | In-frame deletion | Rare | Disrupts profilin fold; loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletion mutations (e.g., p.Glu23del) impair actin binding and lead to reduced actin polymerization, affecting neuronal development.
Gain of Function (GOF)
Overexpression in cancers (e.g., breast, prostate) enhances cell motility and invasion, consistent with a gain-of-function role.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu101Lys) may interfere with wild-type profilin 2 function in actin dynamics, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663213)
• RHO GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
Protein Summary
Profilin 2 is a 140-amino acid protein (15.2 kDa) that binds monomeric actin (G-actin) and promotes nucleotide exchange, facilitating actin filament elongation. It also interacts with polyproline-containing proteins (e.g., VASP, Mena) and phosphatidylinositol 4,5-bisphosphate (PIP2). The protein is highly expressed in the brain and spinal cord, where it regulates synaptic vesicle recycling and dendritic spine morphology. Structural studies reveal a conserved profilin fold with a central antiparallel beta-sheet flanked by alpha-helices. Post-translational modifications include phosphorylation at Ser137, which modulates actin binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFN2 Knockout HEK293 Cell Line | EDJ-KQ1330 | Human | 5217 | Details Get a Quote |
| PFN2 Knockout A-549 Cell Line | EDJ-KQ20771 | Human | 5217 | Details Get a Quote |
| PFN2 Knockout HCT 116 Cell Line | EDJ-KQ20772 | Human | 5217 | Details Get a Quote |
| PFN2 Knockout HeLa Cell Line | EDJ-KQ20773 | Human | 5217 | Details Get a Quote |
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