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Flna - filamin, alpha Gene

Also Known as Fln1; Dilp2; ABP-280; GENA 379; filamin-1; F730004A14Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 192176

Summary

Enables Potassium Channel regulator activity and protein kinase C binding activity. Involved in several processes, including circulatory system development; regulation of ion transmembrane transport; and regulation of neuron projection development. Acts upstream of or within actin Cytoskeleton organization; early endosome to late endosome transport; and epithelial to mesenchymal transition. Located in several cellular components, including Z disc; axonal growth cone; and trans-Golgi network. Is expressed in several structures, including bone; brain; great vessel of heart; gut; and heart. Used to study periventricular nodular heterotopia. Human ortholog(s) of this gene implicated in X-linked recessive disease (multiple); bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A). [provided by Alliance of Genome Resources, Apr 2022]

Flna Products (3)

mRNA	Protein	Name
NM_001290421.1	NP_001277350.1	filamin-A isoform 2
NM_001404064.1	NP_001390993.1	filamin-A isoform 3
NM_010227.3	NP_034357.2	filamin-A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables potassium channel regulator activity	IMP IMP: Inferred from mutant phenotype	24951510	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	8871564	MGI
enables protein kinase C binding	IDA IDA: Inferred from direct assay	12704190	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within actin cytoskeleton organization	IGI IGI: Inferred from genetic interaction	21709252	MGI
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	17172441	MGI
involved in blood vessel remodeling	IMP IMP: Inferred from mutant phenotype	17172441	MGI
involved in cell-cell junction organization	IMP IMP: Inferred from mutant phenotype	17172441	MGI
acts upstream of or within early endosome to late endosome transport	IDA IDA: Inferred from direct assay	9412467	MGI
acts upstream of or within epithelial to mesenchymal transition	IGI IGI: Inferred from genetic interaction	21709252	MGI
involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	17172441	MGI
involved in negative regulation of neuron projection development	IGI IGI: Inferred from genetic interaction	25358863	MGI
involved in positive regulation of axon regeneration	IMP IMP: Inferred from mutant phenotype	26157139	MGI
involved in positive regulation of potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24951510	MGI
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24951510	MGI
involved in regulation of actin filament bundle assembly	IMP IMP: Inferred from mutant phenotype	20713593	MGI
involved in regulation of membrane repolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	24951510	MGI
involved in semaphorin-plexin signaling pathway	IEP IEP: Inferred from expression pattern	25358863	MGI
involved in semaphorin-plexin signaling pathway	IGI IGI: Inferred from genetic interaction	25358863	MGI
involved in synapse organization	IDA IDA: Inferred from direct assay	26972007	MGI
involved in synapse organization	IMP IMP: Inferred from mutant phenotype	26972007	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	24951510	MGI
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	25358863	MGI
located in actin filament bundle	IDA IDA: Inferred from direct assay	24436304	MGI
located in axonal growth cone	IDA IDA: Inferred from direct assay	26157139	MGI
located in brush border	IDA IDA: Inferred from direct assay	22114352	MGI
located in growth cone	IDA IDA: Inferred from direct assay	25358863	MGI
located in podosome	IDA IDA: Inferred from direct assay	23525008	MGI
located in trans-Golgi network	IDA IDA: Inferred from direct assay	9412467	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
filamin-A	actin-binding protein 280 dilated pupils 2 endothelial actin-binding protein non-muscle filamin

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Phase
HY-139142B	Simufilam hydrochloride	99.85%	Phase 3
HY-139142	Simufilam	99.78%	Phase 3
HY-139142A	Simufilam dihydrochloride	/	Phase 3

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04979	FLNA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18476	Flna Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24957	Flna Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Flna	NCBI	NCBI:2316