Details for Gene FBN2

GENE NAME FBN2
CHROMOSOME 5
ENSEMBL ID ENSG00000138829
ENTREZ ID 2201
UNIPROT ACCESSION NUMBER P35556
GO MOLECULAR FUNCTION extracellular matrix structural constituent; protein binding; calcium ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1474244; R-HSA-1474228; R-HSA-1566948; R-HSA-2129379
3 combinations linked to FBN2 OLI291; OLI795; OLI794
2 variants linked to FBN2 FBN2:c.7357T>A, p.Cys2453Ser; FBN2:c.4094G>C, p.Cys1365Ser
2 diseases linked to FBN2 Adolescent idiopathic scoliosis; Arthrogryposis syndrome

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