filamin A
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Bleeding and platelet disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Childhood interstitial lung disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Familial non syndromic congenital heart disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)+20 more panels — install the extension to see the full list inline on any page.
Melnick-Needles syndrome
heterotopia, periventricular, X-linked dominant
otopalatodigital syndrome type 2
otopalatodigital syndrome type 1
frontometaphyseal dysplasia 1
frontometaphyseal dysplasia
cardiac valvular dysplasia, X-linked
terminal osseous dysplasia-pigmentary defects syndrome
Genetic intestinal disease
congenital short bowel syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Filamin-A
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863)
FLNA · P21333
Mean pLDDT
76.6/ 100
Confident
2,647 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
