FN1 Chromosome 2
Fibronectin 1
Upload your DNA to see your personal genotypes for variants in FN1.
What This Gene Does
This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Receptor ligands|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000115414
Associated Conditions (13)
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Chronic kidney disease
FN1-related disorder
Clear cell carcinoma of kidney
X-linked Alport syndrome
Ovarian serous cystadenocarcinoma
Glomerulopathy with fibronectin deposits 1
Spondylometaphyseal dysplasia
Nephrotic syndrome
See cases
Neurodevelopmental disorder
Key Variants
RS111523341
Conflicting classifications of pathogenicity
Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
Health Risk
RS1179757867
Conflicting classifications of pathogenicity
Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
Health Risk
RS1326049626
Conflicting classifications of pathogenicity
Health Risk
RS13306372
Conflicting classifications of pathogenicity
Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
Health Risk
RS138219703
Conflicting classifications of pathogenicity
Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
Health Risk
RS139078629
Conflicting classifications of pathogenicity
Chronic kidney disease, Chronic kidney disease
Health Risk
RS139452116
Conflicting classifications of pathogenicity
FN1-related disorder, FN1-related disorder
Health Risk
RS140152934
Conflicting classifications of pathogenicity
Inborn genetic diseases, Clear cell carcinoma of kidney, Inborn genetic diseases
Health Risk
RS140926439
Conflicting classifications of pathogenicity
Chronic kidney disease, Chronic kidney disease
Health Risk
RS141400341
Conflicting classifications of pathogenicity
Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
Health Risk
RS144581583
Conflicting classifications of pathogenicity
Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
Health Risk
RS144702918
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (122)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553658926 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia |
| RS1553659131 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia |
| RS1553669703 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia |
| RS1559609410 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia |
| RS1559616744 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia |
| RS2053446114 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2106250495 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2470007923 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS2470007988 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS2470507548 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS113683179 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS137854486 | Health Risk | Pathogenic | Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2 |
| RS137854487 | Health Risk | Pathogenic | Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2 |
| RS137854488 | Health Risk | Pathogenic | Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, FN1-related disorder |
| RS1559604072 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia |
| RS2106514698 | Health Risk | Pathogenic | — |
| RS753456938 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS797044906 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869025198 | Health Risk | Pathogenic | Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2 |
| RS869025199 | Health Risk | Pathogenic | Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2 |
| RS1181638652 | Health Risk | Pathogenic/Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia |
| RS1553667072 | Health Risk | Pathogenic/Likely pathogenic | Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type, Neurodevelopmental disorder |