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 |