Protein Flna

URN	urn:agi-llid:2316
Connectivity	231
Name	Flna
Description	filamin A, alpha
Notes	The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.

Pathway	calcium signaling pathway via the calcium-sensing receptor

GO Molecular Function	signal transducer activity
	transcription factor binding
	glycoprotein binding
	protein homodimerization activity
	actin binding
	Fc-gamma receptor I complex binding
	small GTPase binding
	protein kinase C binding
	Rho GTPase binding
	GTP-Ral binding
	Rac GTPase binding
	actin filament binding

GO Biological Process	establishment of protein localization
	positive regulation of I-kappaB kinase-NF-kappaB cascade
	inhibition of adenylate cyclase activity by dopamine receptor signaling pathway
	negative regulation of transcription factor activity
	positive regulation of transcription factor import into nucleus
	receptor clustering
	cytoplasmic sequestering of protein
	early endosome to late endosome transport
	actin cytoskeleton reorganization
	actin crosslink formation
	protein localization at cell surface
	negative regulation of protein catabolic process
	protein stabilization

Ariadne Ontology	Actin-based cytoskeleton assembly

Group	Actin-based cytoskeleton assembly
	extracellular region
	establishment of protein localization
	positive regulation of I-kappaB kinase-NF-kappaB cascade
	inhibition of adenylate cyclase activity by dopamine receptor signaling pathway
	negative regulation of transcription factor activity
	positive regulation of transcription factor import into nucleus
	receptor clustering
	cytoplasmic sequestering of protein
	early endosome to late endosome transport
	actin cytoskeleton reorganization
	actin crosslink formation
	protein localization at cell surface
	negative regulation of protein catabolic process
	protein stabilization
	signal transducer activity
	transcription factor binding
	glycoprotein binding
	protein homodimerization activity
	actin binding
	Fc-gamma receptor I complex binding
	small GTPase binding
	protein kinase C binding
	Rho GTPase binding
	GTP-Ral binding
	Rac GTPase binding
	actin filament binding
	plasma membrane
	cytoplasm
	cell cortex
	cytosol
	trans-Golgi network
	cytoskeleton
	nucleus
	actin cytoskeleton

MedScan ID	2316

Hugo ID	3754

Human chromosome position	Xq28

Alias	FLN
	FMD
	MNS
	OPD
	ABPX
	FLN1
	NHBP
	OPD1
	OPD2
	ABP-280
	DKFZp434P031
	XX-FW83128A1.1
	filamin-A
	FLN-A
	filamin 1
	filamin-1
	alpha-filamin
	non-muscle filamin
	actin binding protein 280
	endothelial actin-binding protein
	Dilp2
	F730004A14Rik
	GENA 379
	filamin A
	dilated pupils 2
	OTTMUSP00000017781
	OTTMUSP00000023207
	actin-binding protein 280
	RGD1560614
	rCG_43821
	filamin, alpha
	mFLJ00343
	Flna_predicted
	actin binding protein 280, long form
	actin-binding protein-280
	dilated pupils II
	Endothelial actin binding protein
	F730004A14
	filamin 1 (actin-binding protein-280)
	filamin A, alpha
	filamin A, alpha (actin binding protein 280)
	filamin alpha
	filamin alpha (actin binding protein 280)
	filamin I
	FLN I
	Flna
	FLNA_HUMAN
	gelation factor ABP-280, long form
	Nonmuscle filamin
	OPD I
	otopalatodigital syndrome 1
	otopalatodigital syndrome 2
	otopalatodigital syndrome I
	otopalatodigital syndrome II
	OTTHUMP00000024320

Mouse chromosome position	X 29.8 cM

Rat chromosome position	Xq37

PIR ID	A37098

Homologene ID	1119

RGD ID	1560614

MGI ID	95556