Identity
HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
ABP-280,ABP280A,ABPA,ABPL,CMH26,FLN2,MFM5,MPD4,RCM5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2318
MIM: 102565
HGNC: 3756
Ensembl: ENSG00000128591
Variants:
dbSNP: 2318
ClinVar: 2318
TCGA: ENSG00000128591
COSMIC: FLNC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000128591 | ENST00000325888 | Q14315 |
| ENSG00000128591 | ENST00000346177 | Q14315 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38016530 | 2024 | Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins. | 0 |
| 38334670 | 2024 | Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes. | 1 |
| 38761081 | 2024 | Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias. | 0 |
| 38016530 | 2024 | Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins. | 0 |
| 38334670 | 2024 | Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes. | 1 |
| 38761081 | 2024 | Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias. | 0 |
| 35952944 | 2023 | ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium. | 5 |
| 36539187 | 2023 | Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene. | 0 |
| 36864778 | 2023 | Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy. | 2 |
| 37164047 | 2023 | Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant. | 2 |
| 37174721 | 2023 | Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems. | 1 |
| 37461109 | 2023 | Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing. | 1 |
| 37562486 | 2023 | Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant. | 1 |
| 37673657 | 2023 | Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant. | 0 |
| 35952944 | 2023 | ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium. | 5 |
Citation
Dessen P
FLNC (filamin C)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50957/flnc
