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
RS111523341 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS1179757867 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS1326049626 Health Risk Conflicting classifications of pathogenicity
RS13306372 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS138219703 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS139078629 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS139452116 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, FN1-related disorder
RS140152934 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney, Inborn genetic diseases
RS140926439 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS141400341 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS144581583 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS144702918 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145263539 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS145483591 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS146612279 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146898035 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS147627800 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS147802150 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FN1-related disorder, Spondylometaphyseal dysplasia - Sutcliffe type
RS147831535 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS1483052638 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS148388245 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS149278155 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS150238159 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150405747 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS150990682 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS181283286 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS183891852 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS191304573 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199684110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199764052 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS199957523 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS200731330 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS201097962 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS201136367 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS201575058 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202045892 Health Risk Conflicting classifications of pathogenicity
RS202245868 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34043251 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS368428323 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases, X-linked Alport syndrome
RS369339209 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS369527578 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370342980 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS372237449 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS372271954 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372770694 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375642491 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS375667567 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS376754454 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS377551589 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS532827189 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
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