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
RS543350920 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian serous cystadenocarcinoma, Inborn genetic diseases
RS557049566 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS55706546 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS564795973 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS565714281 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS576918048 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS746075396 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746400023 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748276504 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS748766312 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749462589 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS750049518 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS750419825 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS750870933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751026014 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS752850439 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753498044 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753807100 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS754336717 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755984905 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS756317039 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS757231578 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Inborn genetic diseases, FN1-related disorder
RS758442993 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS761479691 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761631513 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761729774 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS762827742 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763402272 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS763439987 Health Risk Conflicting classifications of pathogenicity
RS764149816 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS766780476 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS767081660 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS767465132 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767986025 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS770505069 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS772920001 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS774228554 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS774794772 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775421803 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS775428950 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS778538491 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS778918483 Health Risk Conflicting classifications of pathogenicity
RS778971356 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS779209474 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS780026011 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS780172775 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS908149134 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type, Inborn genetic diseases
RS954994232 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS1064795155 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS112323657 Health Risk Likely pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
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