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GenoLensGenoLens

FN1

Chr 2q35

fibronectin 1

Aliases:
MSF, CIG, LETS, GFND2, FINC
MANE:
ENST00000354785.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Proteinuric renal disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • spondylometaphyseal dysplasia, 'corner fracture' type

    0.80
  • glomerulopathy with fibronectin deposits 2

    0.74
  • cancer

    0.63
  • coronary artery disorder

    0.58
  • Noonan syndrome

    0.53
  • hypertrophic cardiomyopathy

    0.52
  • Costello syndrome

    0.50
  • fibronectin glomerulopathy

    0.48
  • coronary atherosclerosis

    0.48
  • bacterial infectious disease

    0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Fibronectin

Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3593230, PubMed:3900070, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape (PubMed:3024962, PubMed:3593230, PubMed:3900070, PubMed:7989369). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). Participates in the regulation of type I collagen deposition by osteoblasts (By similarity). Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation (PubMed:34089617)

Curated MONDO disease pages that list FN1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.