FN1 (Fibronectin 1) Gene
Extracellular Matrix Glycoprotein Involved in Cell Adhesion, Migration, and Wound Healing
Gene Information Card
| Symbol | FN1 |
|---|---|
| Full Name | Fibronectin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 2335 ncbi.nlm.nih.gov/gene/2335 |
| Ensembl ID | ENSG00000115414 |
| UniProt ID | P02751 |
| OMIM ID | 135600 |
| HGNC ID | 3778 |
| Aliases | FN, CIG, ED-B, FINC, GFND2, LETS, MSF |
Description
The FN1 gene encodes fibronectin, a high-molecular-weight glycoprotein of the extracellular matrix. Fibronectin exists in multiple splice variants and is involved in cell adhesion, migration, wound healing, and tissue remodeling. It binds integrins and other extracellular matrix components, playing a critical role in development and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glomerulopathy with fibronectin deposits (GFND) | Mutations in FN1 lead to abnormal fibronectin accumulation in glomeruli, causing proteinuria and renal failure. | OMIM #601894 |
| Spinal muscular atrophy (SMA) modifier | FN1 variants may influence SMA severity by altering extracellular matrix signaling. | ClinVar, PubMed |
| Cancer (various) | FN1 overexpression or alternative splicing (e.g., ED-B domain) promotes tumor invasion and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 58.2 | High |
| Lung | 42.1 | High |
| Kidney | 36.8 | High |
| Heart | 28.5 | Medium |
| Brain | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.4 | Hepatocellular carcinoma cell line |
| A549 | 55.1 | Lung adenocarcinoma cell line |
| MCF7 | 48.7 | Breast cancer cell line |
| HEK293 | 35.2 | Embryonic kidney cell line |
| K562 | 8.9 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.120G>A (p.Trp40*) | Nonsense | <0.01% | Loss of function; associated with GFND |
| c.743C>T (p.Pro248Leu) | Missense | <0.01% | Altered fibronectin folding; GFND |
| c.1549G>A (p.Gly517Arg) | Missense | <0.01% | Impaired secretion; GFND |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated fibronectin; associated with glomerulopathy.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as gain-of-function.
Dominant Negative (DN)
Missense mutations (e.g., p.Pro248Leu) may interfere with fibronectin polymerization.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • extracellular matrix structural constituent (GO:0005201) |
| • protein binding (GO:0005515) | • extracellular matrix organization (GO:0030198) |
| • wound healing (GO:0042060) |
Pathways
• Integrin signaling pathway (Reactome R-HSA-354192)
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
Protein Summary
Fibronectin 1 is a dimeric glycoprotein composed of two nearly identical subunits linked by disulfide bonds. It contains multiple type I, II, and III repeats, and alternative splicing generates isoforms with or without the EDA, EDB, and IIICS domains. The protein binds integrins, collagen, fibrin, and heparan sulfate, mediating cell-matrix interactions. It is essential for embryonic development, wound healing, and blood coagulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FN1 Knockout HMRSV5 Cell Line | EDJ-KQ42 | Human | 2335 | Details Get a Quote |
| FN1 Knockout HEK293 Cell Line | EDJ-KQ794 | Human | 2335 | Details Get a Quote |
| FN1 Knockout A-549 Cell Line | EDJ-KQ19511 | Human | 2335 | Details Get a Quote |
| FN1 Knockout HCT 116 Cell Line | EDJ-KQ19512 | Human | 2335 | Details Get a Quote |
| FN1 Knockout HeLa Cell Line | EDJ-KQ19513 | Human | 2335 | Details Get a Quote |
| FN1 Knockout HAP1 Cell Line | EDC08356 | Human | 2335 | Details Get a Quote |
