Details for Gene FBLN2

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

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