FLNA Gene Summary [Human]
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FLNA |
| Official Name | filamin A [Source:HGNC Symbol;Acc:HGNC:3754] |
| Ensembl ID | ENSG00000196924 |
| Bio databases IDs | |
| Aliases | filamin A, actin binding protein 280, alpha filamin |
| Synonyms | ABP-280, ABPX, CSBS, CVD1, DILP2, F730004A14Rik, FGS2, filamin-1, Filamin a, filamin, alpha, filamin, α, FLN, FLN1, Flna predicted, FMD, GENA 379, IPOX, LOC100131857, MNS, NEWGENE 1560614, NHBP, ODPF, OPD, OPD1, OPD2, RGD1560614, XLVD, XMVD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FLNA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- Filamin/ABP280 repeat
- G-protein-coupled receptor binding
- transcription factor binding
- tandem repeat
- cytoplasmic domain
- actin binding
- ion channel binding
- immunoglobulin-like protein domain
- rod domain
- Filamin-type immunoglobulin domains
- epithelial sodium channel binding domain
- multiple receptor binding domain
- dimerization domain
- Calponin homology domain
- self-association domain
- immunoglobulin domain
- protein kinase C binding
- potassium channel regulator
- enzyme binding
- linker domain
- protein binding
- receptor binding
- beta strand or sheet
- actin filament binding
- actin-binding domain
- F-actin binding domain
- binding protein
- kinase binding
- protein homodimerization
- hinge domain
- calponin homology (CH) domain superfamily
Pathways
Biological processes and signaling networks where the FLNA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- atopic dermatitis
- FLNA-related disorder
- X-linked dominant periventricular heterotopia
- neurodevelopmental disorder
- type I otopalatodigital syndrome
- glioblastoma
- glioblastoma cancer
- periventricular nodular heterotopia
- thrombosis
role in cell
- binding
- cell death
- apoptosis
- growth
- disassembly
- expression in
- activation in
- number
- transcription in
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- glutaminergic synapse
- fibrillar center
- cortical cytoskeleton
- axon component
- podosome rosette
- cilia
- Extracellular Space
- cell periphery
- basal compartment
- perinuclear region
- postsynaptic region
- cellular membrane
- inner membrane
- focal adhesions
- filamentous network
- podosomes
- actin cytoskeleton
- cell cortex
- Nucleus
- Plasma Membrane
- actin filaments
- intercellular junctions
- cytosol
- apical cell surfaces
- caveolar membranes
- granular components
- trans Golgi network
- nucleoli
- growth cone
- neurites
- Z line
- actin stress fibers
- brush border
- cleavage furrow
- cellular protrusions
- filopodia
- cell membrane leading edge
- perikaryon
- dendritic shafts
- plasma
- lamellipodia
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FLNA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- wound healing, spreading of cells
- protein localization at cell surface
- adenylate cyclase-inhibiting dopamine receptor signaling pathway
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- blood coagulation, intrinsic pathway
- negative regulation of protein catabolic process
- actin crosslink formation
- heart morphogenesis
- positive regulation of axon regeneration
- cytoplasmic sequestering of protein
- angiogenesis
- negative regulation of neuron projection development
- positive regulation of neural precursor cell proliferation
- megakaryocyte development
- release of sequestered calcium ion into cytosol
- platelet aggregation
- positive regulation of integrin-mediated signaling pathway
- negative regulation of transcription from RNA polymerase I promoter
- positive regulation of neuron migration
- mRNA transcription from RNA polymerase II promoter
- positive regulation of protein import into nucleus
- positive regulation of platelet activation
- cilium morphogenesis
- synapse organization
- negative regulation of sequence-specific DNA binding transcription factor activity
- receptor clustering
- positive regulation of substrate adhesion-dependent cell spreading
- formation of radial glial scaffolds
- cerebral cortex development
- tubulin deacetylation
- cell-cell junction organization
- establishment of protein localization
- blood vessel remodeling
- negative regulation of apoptotic process
- early endosome to late endosome transport
- epithelial to mesenchymal transition
- positive regulation of actin filament bundle assembly
- protein stabilization
- regulation of cell migration
- actin cytoskeleton organization
- protein localization in plasma membrane
- semaphorin-plexin signaling pathway
- spindle assembly involved in mitosis
Cellular Component
Where in the cell the gene product is active
- nucleolus
- extracellular region
- actin filament
- perikaryon
- plasma membrane
- nucleus
- Z disc
- trans-Golgi network
- perinuclear region of cytoplasm
- cell-cell junction
- extracellular vesicular exosome
- focal adhesion
- brush border
- axonal growth cone
- cytoplasm
- dendritic shaft
- membrane
- actin filament bundle
- actin cytoskeleton
- cytosol
- Myb complex
- cortical cytoskeleton
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- protein homodimerization activity
- ion channel binding
- actin filament binding
- G-protein coupled receptor binding
- protein binding
- RNA binding
- SMAD binding
- GTPase binding
- cadherin binding
- small GTPase binding
- potassium channel regulator activity
- Fc-gamma receptor I complex binding
- kinase binding