FLNC Gene Summary [Human]

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]

Details

Type
Protein Coding
Official Symbol
FLNC
Official Name
filamin C [Source:HGNC Symbol;Acc:HGNC:3756]
Ensembl ID
ENSG00000128591
Bio databases IDs NCBI: 2318 Ensembl: ENSG00000128591
Aliases filamin C, actin binding protein 280, gamma filamin
Synonyms 1110055E19RIK, ABP-280, ABP280A, ABPA, ABP-L, ARVC15, CMH26, filamin C, filamin C, gamma, filamin C, γ, Filamin gamma, Filamin γ, FLN2, gamma FILAMIN, MFM5, MPD4, RCM5, γ FILAMIN
Species
Human, Homo sapiens
OrthologiesMouseRat

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 FLNC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Filamin/ABP280 repeat
  • Calponin homology domain
  • immunoglobulin domain
  • protein binding
  • identical protein binding
  • actin-binding domain
  • cytoskeletal protein binding
  • ankyrin binding
  • actin binding
  • calponin homology (CH) domain superfamily
  • hinge domain
  • immunoglobulin-like protein domain
  • Filamin-type immunoglobulin domains

Pathways

Biological processes and signaling networks where the FLNC 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
  • Alzheimer disease
  • centronuclear myopathy
  • filamin C-related myofibrillar myopathy
  • endometrial cancer
  • primary dilated cardiomyopathy
  • distal myopathy type 4
  • cardiomyopathy
  • familial hypertrophic cardiomyopathy 26
  • familial primary dilated cardiomyopathy
  • cardiovascular disorder
regulated by
regulates
role in cell
  • morphology
  • activation in
  • quantity
  • differentiation
  • organization
  • fusion
  • number
  • migration
  • reorganization
  • development

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
  • microsomal fraction
  • soluble fraction
  • cellular membrane
  • actin cytoskeleton
  • Plasma Membrane
  • sarcoplasmic reticulum
  • myofilaments
  • costameres
  • cytoplasmic bridges
  • cytosol
  • sarcoplasm
  • sarcolemma
  • Z line

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FLNC gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sarcomere organization

Cellular Component

Where in the cell the gene product is active
  • Z disc
  • intercellular bridge
  • cytoskeleton
  • focal adhesion
  • sarcoplasm
  • cytoplasm
  • sarcolemma
  • costamere
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • protein binding
  • ankyrin binding
  • cytoskeletal protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.