FLNC (filamin C)

2009-06-01  

Identity

HGNC
FLNC
LOCATION
7q32.1
LOCUSID
2318
ALIAS
ABP-280,ABP280A,ABPA,ABPL,CMH26,FLN2,MFM5,MPD4,RCM5
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

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/haematological-explorer/deep-insight-explorer/gene-fusions/?id=50957