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FLASH GENE

Symbol

FLNC

contributors: mct - updated : 18-10-2023

HGNC name	filamin C, gamma
HGNC id	3756

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARVD15 arrhythmogenic right ventricular dysplasia, familial 15 MPD4 distal myopathy-4 MYFM myofibrillar myopathy
Location	7q32.1      Physical location : 128.470.482 - 128.499.327
Synonym name	filamin C, gamma (actin binding protein 280)
	actin binding protein, dystrophin-like (APB280)
	filamin 2
	ABP-280-like protein
Synonym symbol(s)	ACBL, ABPA, ABPL, FLN2, ABP-280, ABP280A, FLJ10186, ARVD15, CMH26, MFM5, MPD4, RCM5

DNA

TYPE	functioning gene
STRUCTURE	28.87 kb     48 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S686 - D7S530 - FLNC - D7S649 - qter
Authors	Charakova (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001458 48 - 9159 NP_001449 - 2725 - 1997 9006895 NM_001127487 47 - 9050 NP_001120959 - 2692 - 1997 9006895

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   specific Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal actin-binding domain followed by
	24 immunoglobulin-like repeats with two intervening calpain-sensitive hinges separating R15 and R16 (hinge 1) and R23 and R24 (hinge-2)
	a C-terminal self-association domain, part of the dimerization region

conjugated

RiboP

HOMOLOGY

Homologene

FAMILY

filamin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	localized in the Z-disc due to the unique insertion of 82 amino acid residues in repeat 20 and necessary for normal Z-disc formation that connect sarcomeres.

basic FUNCTION	dimeric actin cross-linking phosphoprotein
	may be involved in reorganizing the actin
	cytoskeleton in response to signaling events, and may be also displaying structural functions at the
	Z-disks in muscle cells
	is essential for sarcomere attachment to the plasmatic membrane
	possible role of FLNC as a mechanosensor during muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with KY for sarcomere formation and/or stabilization
	interacting with SORBS1 (Zhang 2007)
	SYNPO2 is a novel filamin C binding partner, and interacts with filamin C immunoglobulin-like domains 20-21 (Linnemann 2010)
	FLNC is an interacting partner of HSPB7, and HSPB7 is essential for maintaining muscle integrity, which is achieved through its interaction with FLNC
	RTN4 interacted with FLNC, suggesting a role for RTN4 in cytoskeletal arrangement during myogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MYFM , MPD4 , ARVD15

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	FLNC expression is a useful biomarker of esophageal squamous cell carcinoma (ESCC) metastatic tendency
Therapy target
	System Type Disorder Pubmed cancer digestive oesophagus inhibiting FLNC function may be useful to control the metastasis of ESCC

ANIMAL & CELL MODELS