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FLASH GENE

Symbol

FLNC

contributors: mct - updated : 23-08-2010

HGNC name	filamin C, gamma
HGNC id	3756

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	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

DNA

TYPE	functioning gene
STRUCTURE	28.85 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 - 9149 NP_001449 - 2725 - Liu (1997) NM_001127487 47 - 9050 NP_001120959 - 2692 - Liu (1997)

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	three functional domains : an N-terminal filamentous actin-binding domain (ABD)
	a membrane glycoprotein-binding domain
	two calponin-homology (CH) domains
	24 filamin repeats
	a dimerization domain
	a C-terminal self-association domain, part of the dimerization region

conjugated

RiboP

HOMOLOGY

Homologene

FAMILY

filamin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

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

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)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MYFM , MPD4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS