FSCN3
Fascin Actin-Bundling Protein 3
Gene Information Card
| Symbol | FSCN3 |
|---|---|
| Full Name | fascin actin-bundling protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 29999 ncbi.nlm.nih.gov/gene/29999 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q9NQT6 |
| OMIM ID | 605565 |
| HGNC ID | 3961 |
| Aliases | fascin-3, testis-specific fascin |
Description
FSCN3 (fascin actin-bundling protein 3) is a protein-coding gene located on chromosome 7q31.2. It encodes a member of the fascin family of actin-bundling proteins, which organize filamentous actin into parallel bundles. FSCN3 is predominantly expressed in the testis and is involved in spermatogenesis, particularly in the formation of the acrosome and flagellum. The protein contains two fascin domains and is essential for proper actin cytoskeleton dynamics during sperm development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Mutations in FSCN3 may disrupt actin bundling in spermatogenesis, impairing sperm motility and acrosome formation. | Limited evidence from case-control studies and animal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Fallopian tube | 2.1 | Low |
| Prostate | 1.5 | Low |
| Ovary | 1.0 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids and spermatocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Potential loss of actin-binding function |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the fascin domain may reduce actin-bundling activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin filament bundle assembly | • actin cytoskeleton organization |
| • cell projection organization | • protein binding |
| • actin binding |
Pathways
• Actin cytoskeleton regulation
• Fascin-mediated actin bundling
Protein Summary
Fascin-3 is a 55 kDa actin-bundling protein composed of two tandem fascin domains. It cross-links actin filaments into tightly packed bundles, contributing to the structural integrity of cellular protrusions. In the testis, fascin-3 is critical for the formation of the acrosome and the flagellum, supporting sperm motility and fertilization. The protein is highly conserved among vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSCN3 Knockout HEK293 Cell Line | EDJ-KQ9127 | Human | 29999 | Details Get a Quote |
| FSCN3 Knockout HeLa Cell Line | EDJ-KQ56141 | Human | 29999 | Details Get a Quote |
| FSCN3 Knockout A-549 Cell Line | EDJ-KQ64628 | Human | 29999 | Details Get a Quote |
| FSCN3 Knockout HCT 116 Cell Line | EDJ-KQ73080 | Human | 29999 | Details Get a Quote |
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