FN1 Chromosome 2

Fibronectin 1
122 variants 122 Health Risk

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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
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