PFN3 Gene - Profilin 3
A member of the profilin family involved in actin cytoskeleton dynamics
Gene Information Card
| Symbol | PFN3 |
|---|---|
| Full Name | Profilin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 345456 ncbi.nlm.nih.gov/gene/345456 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q8NHR7 |
| OMIM ID | 609996 |
| HGNC ID | 18025 |
| Aliases | FLJ10292 |
Description
PFN3 encodes profilin 3, a member of the profilin family of actin-binding proteins. Profilins regulate actin polymerization by sequestering actin monomers and promoting nucleotide exchange. PFN3 is predominantly expressed in testis and is involved in spermatogenesis and cytoskeletal dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered actin dynamics in spermatogenesis | PMID: 19151156 |
| Prostate cancer | Dysregulated expression affecting cell motility | COSMIC analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.5 | High |
| Brain | 2.3 | Low |
| Heart | 1.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.8 | Low expression |
| K562 | 0.3 | Not detected |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197A>G (p.Asn66Ser) | Missense | <0.01% | Unknown functional impact |
| c.304C>T (p.Arg102Cys) | Missense | <0.01% | Potential loss of actin binding |
Mutation functional classification
Loss of Function (LOF)
p.Arg102Cys may impair actin binding
Gain of Function (GOF)
None reported
Dominant Negative (DN)
None reported
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin cytoskeleton organization |
| • spermatogenesis | • phosphatidylinositol-4 |
| • 5-bisphosphate binding |
Pathways
• Regulation of actin cytoskeleton
• Signaling by Rho GTPases
Protein Summary
Profilin 3 is a 140-amino acid protein that binds to actin monomers and polyphosphoinositides. It is highly expressed in testis and plays a role in spermatogenesis by regulating actin filament dynamics. Structural studies show a conserved profilin fold with a central beta-sheet flanked by alpha-helices.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFN3 Knockout HEK293 Cell Line | EDJ-KQ1329 | Human | 345456 | Details Get a Quote |
| PFN3 Knockout HeLa Cell Line | EDJ-KQ59789 | Human | 345456 | Details Get a Quote |
| PFN3 Knockout A-549 Cell Line | EDJ-KQ68257 | Human | 345456 | Details Get a Quote |
| PFN3 Knockout HCT 116 Cell Line | EDJ-KQ76632 | Human | 345456 | Details Get a Quote |
