GSN (Gelsolin) Gene
Actin-binding protein involved in cytoskeletal regulation, amyloidosis, and cancer
Gene Information Card
| Symbol | GSN |
|---|---|
| Full Name | Gelsolin |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 2934 ncbi.nlm.nih.gov/gene/2934 |
| Ensembl ID | ENSG00000134333 |
| UniProt ID | P06396 |
| OMIM ID | 137350 |
| HGNC ID | 4620 |
| Aliases | AGEL, DKFZp313L0718, gelsolin |
Description
The GSN gene encodes gelsolin, a calcium-regulated actin-binding protein that severs and caps actin filaments, modulating cytoskeletal dynamics. It is expressed in both cytoplasmic and secreted isoforms. Mutations in GSN cause familial amyloidosis of Finnish type (AGel amyloidosis), and altered expression is implicated in cancer invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial amyloidosis, Finnish type (AGel amyloidosis) | Missense mutations (e.g., D187N/Y) cause aberrant proteolysis and deposition of gelsolin fragments as amyloid fibrils. | OMIM #105120; ClinVar |
| Amyloidosis, primary localized cutaneous | Similar mechanism with gelsolin amyloid deposition in skin. | OMIM #105120 |
| Cancer (various) | Altered gelsolin expression affects cell motility and invasion; loss of expression correlates with poor prognosis in breast, lung, and bladder cancers. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.8 | Medium |
| Lung | 10.2 | Medium |
| Spleen | 9.5 | Medium |
| Placenta | 8.1 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| A549 | 11.4 | Lung carcinoma |
| HeLa | 9.8 | Cervical carcinoma |
| MCF7 | 7.3 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.559G>A (p.Asp187Asn) | Missense | Common in Finnish population | Amyloidogenic; causes AGel amyloidosis |
| c.560A>G (p.Asp187Tyr) | Missense | Rare | Amyloidogenic; causes AGel amyloidosis |
| c.1374C>T (p.Thr458=) | Synonymous | Unknown | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
Not typical for GSN; loss of gelsolin expression in cancer is associated with increased metastasis.
Gain of Function (GOF)
Amyloidogenic mutations (D187N/Y) confer a gain of toxic function via aberrant proteolysis and amyloid deposition.
Dominant Negative (DN)
Amyloidogenic mutations act in a dominant-negative manner by promoting aggregation of mutant and wild-type gelsolin fragments.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin filament severing (GO:0051014) |
| • calcium ion binding (GO:0005509) | • actin cytoskeleton organization (GO:0030036) |
| • extracellular space (GO:0005615) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
Gelsolin is a multifunctional actin-binding protein that regulates actin filament assembly and disassembly. It exists as cytoplasmic and secreted isoforms. The protein is involved in cell motility, morphogenesis, and apoptosis. Mutations in the GSN gene lead to gelsolin amyloidosis, characterized by corneal lattice dystrophy, cranial neuropathy, and skin laxity. In cancer, loss of gelsolin expression correlates with increased invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HGSNAT Knockout HEK293 Cell Line | EDJ-KQ2968 | Human | 138050 | Details Get a Quote |
| GSN Knockout HEK293 Cell Line | EDJ-KQ4802 | Human | 2934 | Details Get a Quote |
| LGSN Knockout HEK293 Cell Line | EDJ-KQ14066 | Human | 51557 | Details Get a Quote |
| HGSNAT Knockout A-549 Cell Line | EDJ-KQ24125 | Human | 138050 | Details Get a Quote |
| HGSNAT Knockout HeLa Cell Line | EDJ-KQ24127 | Human | 138050 | Details Get a Quote |
| LGSN Knockout HeLa Cell Line | EDJ-KQ43973 | Human | 51557 | Details Get a Quote |
| HGSNAT Knockout HCT 116 Cell Line | EDJ-KQ22755 | Human | 138050 | Details Get a Quote |
| LGSN Knockout A-549 Cell Line | EDJ-KQ26285 | Human | 51557 | Details Get a Quote |
| GSN Knockout A-549 Cell Line | EDJ-KQ26347 | Human | 2934 | Details Get a Quote |
| GSN Knockout HCT 116 Cell Line | EDJ-KQ27570 | Human | 2934 | Details Get a Quote |
| GSN Knockout HeLa Cell Line | EDJ-KQ27571 | Human | 2934 | Details Get a Quote |
| LGSN Knockout HCT 116 Cell Line | EDJ-KQ73260 | Human | 51557 | Details Get a Quote |
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