PFN4 Gene - Profilin Family Member 4
A member of the profilin family involved in actin cytoskeleton dynamics
Gene Information Card
| Symbol | PFN4 |
|---|---|
| Full Name | Profilin Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 375189 ncbi.nlm.nih.gov/gene/375189 |
| Ensembl ID | ENSG00000188739 |
| UniProt ID | Q8NHR7 |
| OMIM ID | 615852 |
| HGNC ID | 30418 |
| Aliases | FLJ38973, MGC138499 |
Description
PFN4 (Profilin Family Member 4) is a protein-coding gene that encodes a member of the profilin family. Profilins are small actin-binding proteins that regulate actin polymerization and cytoskeletal dynamics. PFN4 is specifically expressed in the testis and is involved in spermatogenesis and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | PFN4 mutations may impair actin dynamics in sperm cells, affecting spermatogenesis and sperm motility | Limited evidence from case studies; further research needed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.2 | Low expression |
| HEK 293 | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
| Testicular cell lines | Not available | No data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; predicted loss of function |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Unknown effect; not characterized |
Mutation functional classification
Loss of Function (LOF)
Predicted for start-loss mutations; no functional studies available
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • profilin binding (GO:0005522) |
| • actin filament organization (GO:0007015) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
Profilin-4 is a 140-amino acid protein (UniProt Q8NHR7) that binds to actin monomers and regulates actin polymerization. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The protein structure includes a profilin domain that mediates interactions with actin and polyproline sequences.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFN4 Knockout HEK293 Cell Line | EDJ-KQ1331 | Human | 375189 | Details Get a Quote |
| PFN4 Knockout A-549 Cell Line | EDJ-KQ20774 | Human | 375189 | Details Get a Quote |
| PFN4 Knockout HeLa Cell Line | EDJ-KQ20775 | Human | 375189 | Details Get a Quote |
| PFN4 Knockout HCT 116 Cell Line | EDJ-KQ76757 | Human | 375189 | Details Get a Quote |
