FSCN2
Fascin Actin-Bundling Protein 2, Retinal
Gene Information Card
| Symbol | FSCN2 |
|---|---|
| Full Name | fascin actin-bundling protein 2, retinal |
| Gene Type | protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 25794 ncbi.nlm.nih.gov/gene/25794 |
| Ensembl ID | ENSG00000186765 |
| UniProt ID | O14926 |
| OMIM ID | 607643 |
| HGNC ID | 3961 |
| Aliases | RFSN, retinitis pigmentosa 30 (RP30) |
Description
FSCN2 encodes fascin-2, a member of the fascin family of actin-bundling proteins. Fascin-2 is specifically expressed in the retina and is involved in the organization of actin filaments in photoreceptor cells. Mutations in FSCN2 are associated with autosomal dominant retinitis pigmentosa (adRP) and other retinal degenerations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 30 (RP30) | Dominant-negative mutations in FSCN2 disrupt actin bundling in photoreceptor cells, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Retinitis pigmentosa (general) | Loss-of-function or dominant-negative variants impair photoreceptor structure and function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Testis | Low | Low expression |
| Other tissues | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Moderate | Retinal cell line |
| HEK293 | Low | Non-retinal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.72delG (p.Gly25Alafs*50) | Frameshift | Rare | Loss of function; associated with RP30 |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Dominant-negative; disrupts actin binding |
| c.1048C>T (p.Arg350Trp) | Missense | Rare | Likely pathogenic; alters protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Pro135Leu) that interfere with actin bundling in the presence of wild-type protein.
View complete mutation data：
Gene Ontology (GO)
| • actin filament bundle assembly | • actin cytoskeleton organization |
| • cell projection organization | • photoreceptor cell maintenance |
Pathways
• Actin cytoskeleton regulation
• Photoreceptor cell morphogenesis
Protein Summary
Fascin-2 is a 493-amino acid actin-bundling protein with four tandem fascin domains. It cross-links actin filaments into tightly packed bundles, essential for the structural integrity of photoreceptor cell inner and outer segments. The protein is highly conserved and retina-specific.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSCN2 Knockout HEK293 Cell Line | EDJ-KQ8231 | Human | 25794 | Details Get a Quote |
| FSCN2 Knockout HCT 116 Cell Line | EDJ-KQ34133 | Human | 25794 | Details Get a Quote |
| FSCN2 Knockout HeLa Cell Line | EDJ-KQ55816 | Human | 25794 | Details Get a Quote |
| FSCN2 Knockout A-549 Cell Line | EDJ-KQ64310 | Human | 25794 | Details Get a Quote |
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