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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
159290272005A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.81
207326272010Case-control genome-wide association study of attention-deficit/hyperactivity disorder.58
279083492016Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.48
266668912016Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.35
253519252014Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.32
216203542011Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.31
145067202003Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.26
190507262009In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.24
154615882004Identification of filamin C as a new physiological substrate of PKBalpha using KESTREL.23

Citation

Dessen P

FLNC (filamin C)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50957/flnc