filaggrin
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPalmoplantar keratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomalRare genetic inflammatory skin disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalatopic eczema
ichthyosis vulgaris
Eczematoid dermatitis
asthma
dermatitis
skin disorder
Abnormality of the skeletal system
childhood onset asthma
dermatophytosis
contact dermatitis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fibroblast growth factor receptor 1
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation
Curated MONDO disease pages that list FLG among their top associated genes.
FLG · P20930
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
