FLNC Gene - Filamin C
A comprehensive guide to the FLNC gene, its function, associated diseases, and clinical significance.
Gene Information Card
| Symbol | FLNC |
|---|---|
| Full Name | Filamin C |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 2318 ncbi.nlm.nih.gov/gene/2318 |
| Ensembl ID | ENSG00000128591 |
| UniProt ID | Q14315 |
| OMIM ID | 102565 |
| HGNC ID | 3756 |
| Aliases | ABP-280, ABPL, FLN2, filamin-2 |
Description
The FLNC gene encodes filamin C, a member of the filamin family of actin-binding proteins. Filamin C is primarily expressed in skeletal and cardiac muscle, where it crosslinks actin filaments and links them to membrane glycoproteins, playing a critical role in sarcomere structure and signaling. Mutations in FLNC are associated with various myopathies and cardiomyopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myofibrillar myopathy 5 (MFM5) | Dominant-negative or loss-of-function mutations disrupt sarcomere integrity, leading to protein aggregation and muscle weakness. | ClinVar, OMIM |
| Dilated cardiomyopathy 1U (CMD1U) | Loss-of-function or dominant-negative mutations impair actin crosslinking and mechanotransduction, causing cardiac dilation and dysfunction. | ClinVar, OMIM |
| Hypertrophic cardiomyopathy 26 (CMH26) | Gain-of-function or dominant-negative mutations alter sarcomere compliance, leading to hypertrophy. | ClinVar, OMIM |
| Restrictive cardiomyopathy 5 (RCM5) | Mutations affecting the actin-binding domain reduce flexibility, causing diastolic dysfunction. | ClinVar, OMIM |
| Distal myopathy with rimmed vacuoles | Loss-of-function mutations lead to myofiber degeneration and vacuole formation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 186.5 | High |
| Heart | 112.3 | High |
| Esophagus | 12.1 | Medium |
| Smooth muscle | 8.4 | Medium |
| Brain | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 98.2 | High expression |
| Skeletal muscle myoblasts | 145.6 | High expression |
| Fibroblasts | 2.3 | Low expression |
| HEK 293 | 0.8 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.8129G>A (p.Arg2710Gln) | Missense | Rare | Dominant-negative; associated with hypertrophic cardiomyopathy |
| c.7251_7252del (p.Val2418fs) | Frameshift | Rare | Loss-of-function; associated with dilated cardiomyopathy |
| c.5161C>T (p.Arg1721Trp) | Missense | Rare | Dominant-negative; associated with myofibrillar myopathy |
| c.7477C>T (p.Arg2493*) | Nonsense | Rare | Loss-of-function; associated with distal myopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to haploinsufficiency or truncated protein, associated with dilated cardiomyopathy and distal myopathy.
Gain of Function (GOF)
Missense mutations that enhance actin binding or alter protein stability, linked to hypertrophic cardiomyopathy.
Dominant Negative (DN)
Missense mutations that produce a defective protein interfering with wild-type filamin C function, common in myofibrillar myopathy and restrictive cardiomyopathy.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament binding |
| • structural constituent of muscle | • protein homodimerization activity |
| • integrin binding | • cytoskeleton organization |
| • muscle contraction | • cardiac muscle contraction |
| • Z disc |
Pathways
• Actin cytoskeleton regulation
• Cardiac muscle contraction
• Integrin signaling
• Striated muscle contraction
Protein Summary
Filamin C is a 2,725-amino acid protein that forms homodimers and crosslinks actin filaments into orthogonal networks. It contains an N-terminal actin-binding domain and 24 immunoglobulin-like repeats. In muscle, it localizes to the Z-disc and sarcolemma, linking the sarcomere to the extracellular matrix via integrins. It also participates in signaling pathways involving MAPK and TGF-beta.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLNC Knockout HEK293 Cell Line | EDJ-KQ667 | Human | 2318 | Details Get a Quote |
| FLNC Knockout HeLa Cell Line | EDJ-KQ18101 | Human | 2318 | Details Get a Quote |
| FLNC Knockout A-549 Cell Line | EDJ-KQ19192 | Human | 2318 | Details Get a Quote |
| FLNC Knockout HCT 116 Cell Line | EDJ-KQ19193 | Human | 2318 | Details Get a Quote |
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