Details for Gene FLNA

GENE NAME FLNA
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000196924
UNIPROT ACCESSION NUMBER P21333
GO MOLECULAR FUNCTION ['RNA binding', 'Fc-gamma receptor I complex binding', 'small GTPase binding', 'actin filament binding', 'protein kinase C binding', 'transmembrane transporter binding', 'cadherin binding', 'potassium channel regulator activity', 'kinase binding', 'G protein-coupled receptor binding', 'protein binding', 'GTPase binding', 'protein homodimerization activity', 'DNA-binding transcription factor binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa04510; hsa05132; hsa05205; R-HSA-109582; R-HSA-114608; R-HSA-1169410; R-HSA-1280215; R-HSA-1500931; R-HSA-162582; R-HSA-168256; R-HSA-194315; R-HSA-195258; R-HSA-430116; R-HSA-446353; R-HSA-446728; R-HSA-5627123; R-HSA-76002; R-HSA-76005; R-HSA-8983711; R-HSA-913531; hsa04010; hsa04510; hsa05132; hsa05205; hsa04010; hsa04510; hsa05132; hsa05205; hsa04010; hsa04510; hsa05132; hsa05205; R-HSA-109582; R-HSA-114608; R-HSA-1169410; R-HSA-1280215; R-HSA-1500931; R-HSA-162582; R-HSA-168256; R-HSA-194315; R-HSA-195258; R-HSA-430116; R-HSA-446353; R-HSA-446728; R-HSA-5627123; R-HSA-76002; R-HSA-76005; R-HSA-8983711; R-HSA-913531; hsa04010; hsa04510; hsa05132; hsa05205; hsa04010; hsa04510; hsa05132; hsa05205
6 combinations linked to FLNA OLI1516; OLI352; OLI602; OLI1570; OLI1542; OLI1558
6 variants linked to FLNA FLNA:c.3756G>A, p.Ala1252Ala; FLNA:c.651C>T, p.Asp217=; FLNA:c.2449C>T, p.Pro817Ser; FLNA:c.6967G>A, p.Asp2323Asn; FLNA:c.5218-4G>A, ; FLNA:c.7450C>T, p.Arg2484Cys
3 diseases linked to FLNA Disorder of sex development; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development
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