FLNC (filamin C)

2009-06-01  

Identity

HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
ABP-280,ABP280A,ABPA,ABPL,CMH26,FLN2,MFM5,MPD4,RCM5
FUSION GENES

Other Information

Locus ID:

NCBI: 2318
MIM: 102565
HGNC: 3756
Ensembl: ENSG00000128591

Variants:

dbSNP: 2318
ClinVar: 2318
TCGA: ENSG00000128591
COSMIC: FLNC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128591ENST00000325888Q14315
ENSG00000128591ENST00000346177Q14315

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Focal adhesionKEGGko04510
MAPK signaling pathwayKEGGhsa04010
Focal adhesionKEGGhsa04510
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-extracellular matrix interactionsREACTOMER-HSA-446353

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380165302024Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins.0
383346702024Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes.1
387610812024Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.0
380165302024Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins.0
383346702024Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes.1
387610812024Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.0
359529442023ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.5
365391872023Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene.0
368647782023Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.2
371640472023Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.2
371747212023Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.1
374611092023Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.1
375624862023Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.1
376736572023Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant.0
359529442023ROD2 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/tumors-explorer/js/lib/img/logo-atlas-4.svg