GENE NAME | FLNB |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000136068 |
ENTREZ ID | 2317 |
UNIPROT ACCESSION NUMBER | O75369 |
GO MOLECULAR FUNCTION | protein binding; actin binding; actin filament binding; RNA binding; identical protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04510; R-HSA-168256; hsa04010; R-HSA-1169408; hsa05132; hsa05205; R-HSA-913531; R-HSA-1169410; R-HSA-1280215 |
6 combinations linked to FLNB | OLI295; OLI296; OLI293; OLI294; OLI292; OLI298 |
6 variants linked to FLNB | FLNB:c.1697G>T, p.Arg566Leu; FLNB:c.1696C>T, p.Arg566Trp; FLNB:c.6844G>A, p.Ala2282Thr; FLNB:c.1745T>C, p.Leu582Pro; FLNB:c.3430G>C, p.Glu1144Gln; FLNB:p.Arg2003His |
1 disease linked to FLNB | Adolescent idiopathic scoliosis |