GENE NAME | FBLN2 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000163520 |
ENTREZ ID | 2199 |
UNIPROT ACCESSION NUMBER | P98095 |
GO MOLECULAR FUNCTION | extracellular matrix binding; extracellular matrix structural constituent; protein binding; calcium ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1566948; R-HSA-2129379; R-HSA-1474244 |
1 combination linked to FBLN2 | OLI574 |
1 variant linked to FBLN2 | FBLN2:c.385G>A, p.Asp129Asn |
1 disease linked to FBLN2 | Disorder of sex development |