FLNA filamin A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLNAprovided by HGNC
Official Full Name: filamin Aprovided by HGNC
Primary source: HGNC:HGNC:3754
See related: Ensembl:ENSG00000196924 MIM:300017; AllianceGenome:HGNC:3754
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FLN; FMD; MNS; OPD; ABPX; CSBS; CVD1; FGS2; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280
Summary: 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.[provided by RefSeq, Mar 2009]
Expression: Broad expression in endometrium (RPKM 345.6), esophagus (RPKM 285.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154348531..154374634, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152585064..152611166, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153576899..153603002, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Title: Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Global acetylome profiling indicates EPA impedes but OA promotes prostate cancer motility through altered acetylation of PFN1 and FLNA.
Title: Global acetylome profiling indicates EPA impedes but OA promotes prostate cancer motility through altered acetylation of PFN1 and FLNA.
[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].
Title: [Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Title: Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
GPIbalpha-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Title: GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Filamin A is involved in human intrahepatic cholangiocarcinoma aggressiveness and progression.
Title: Filamin A is involved in human intrahepatic cholangiocarcinoma aggressiveness and progression.
FLNA expression modulates pathological markers of pituitary neuroendocrine tumours.
Title: FLNA expression modulates pathological markers of pituitary neuroendocrine tumours.
Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway.
Title: Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway.
Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.
Title: Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.
CircFLNA/miR-214 modulates regulatory T cells by regulating PD-1 in acute lung injury induced by sepsis.
Title: CircFLNA/miR-214 modulates regulatory T cells by regulating PD-1 in acute lung injury induced by sepsis.

Submit: New GeneRIF Correction See all GeneRIFs (261)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cardiac valvular dysplasia, X-linked MedGen: C0262436 OMIM: 314400 GeneReviews: FLNA Deficiency	not available
FG syndrome 2 MedGen: C1845902 OMIM: 300321 GeneReviews: Not available	not available
Frontometaphyseal dysplasia 1 MedGen: C4281559 OMIM: 305620 GeneReviews: X-Linked Otopalatodigital Spectrum Disorders	not available
Heterotopia, periventricular, X-linked dominant MedGen: C1848213 OMIM: 300049 GeneReviews: FLNA Deficiency	not available
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MedGen: C2746068 OMIM: 300048 GeneReviews: FLNA Deficiency	not available
Melnick-Needles syndrome MedGen: C0025237 OMIM: 309350 GeneReviews: X-Linked Otopalatodigital Spectrum Disorders	not available
Oto-palato-digital syndrome, type I MedGen: C0265251 OMIM: 311300 GeneReviews: X-Linked Otopalatodigital Spectrum Disorders	not available
Oto-palato-digital syndrome, type II MedGen: C1844696 OMIM: 304120 GeneReviews: X-Linked Otopalatodigital Spectrum Disorders	not available
Terminal osseous dysplasia-pigmentary defects syndrome MedGen: C1846129 OMIM: 300244 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-02) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	Filamin-A-dependent activation of the RhoA-ROCK-LIMK-cofilin pathway is a major event in HIV-1 gp120-induced receptor clustering	PubMed
	env	HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Cellular biotinylated filamin A, alpha (FLNA) protein is incorporated into HIV-1 Gag virus-like particles	PubMed
	gag	Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	gag	HIV-1 Gag binds to filamin A through the CA domain, which leads to facilitate Gag trafficking to the plasma membrane	PubMed
	gag	HIV-1 Gag co-localizes with filamin A in mammalian cells. Depletion of filamin A inhibits HIV-1 particle release and induces Gag accumulation at the LE/MVB compartment	PubMed
Tat	tat	Filamin A, alpha (FLNA) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
	tat	Expression of HIV-1 Tat upregulates the abundance of filamin A, alpha (FLNA) in the nucleoli of Jurkat T-cells	PubMed
Vpr	vpr	HIV-1 Vpr upregulates FLNA in HeLa cells within 12 hours of exposure	PubMed
retropepsin	gag-pol	A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD00755 (e-PCR)
- UniSTS:281864

ECD02821 (e-PCR)
- UniSTS:283914

ECD02315 (e-PCR)
- UniSTS:283415

ECD01291 (e-PCR)
- UniSTS:282397

ECD01813 (e-PCR)
- UniSTS:282914

ECD02343 (e-PCR)
- UniSTS:283442

ECD02344 (e-PCR)
- UniSTS:283443

ECD00293 (e-PCR)
- UniSTS:281406

ECD02624 (e-PCR)
- UniSTS:283718

ECD03921 (e-PCR)
- UniSTS:285001

MARC_6567-6568:992007312:1 (e-PCR)
- UniSTS:231246

ECD01863 (e-PCR)
- UniSTS:282964

REN89250 (e-PCR)
- UniSTS:414048

ECD02131 (e-PCR)
- UniSTS:283232

REN89251 (e-PCR)
- UniSTS:414049

REN89252 (e-PCR)
- UniSTS:414050

REN89253 (e-PCR)
- UniSTS:414051

ECD02393 (e-PCR)
- UniSTS:283491

ECD01622 (e-PCR)
- UniSTS:282724

REN89254 (e-PCR)
- UniSTS:414052

ECD02394 (e-PCR)
- UniSTS:283492

REN89255 (e-PCR)
- UniSTS:414053

REN89256 (e-PCR)
- UniSTS:414054

REN89257 (e-PCR)
- UniSTS:414055

REN89258 (e-PCR)
- UniSTS:414056

REN89259 (e-PCR)
- UniSTS:414057

REN89260 (e-PCR)
- UniSTS:414058

REN89261 (e-PCR)
- UniSTS:414059

ECD07049 (e-PCR)
- UniSTS:288107

REN89262 (e-PCR)
- UniSTS:414060

REN89263 (e-PCR)
- UniSTS:414061

REN89264 (e-PCR)
- UniSTS:414062

REN89265 (e-PCR)
- UniSTS:414063

REN89266 (e-PCR)
- UniSTS:414064

REN89267 (e-PCR)
- UniSTS:414065

REN89268 (e-PCR)
- UniSTS:414066

REN89269 (e-PCR)
- UniSTS:414067

REN89270 (e-PCR)
- UniSTS:414068

REN89271 (e-PCR)
- UniSTS:414069

REN89272 (e-PCR)
- UniSTS:414070

REN89273 (e-PCR)
- UniSTS:414071

REN89274 (e-PCR)
- UniSTS:414072

REN89275 (e-PCR)
- UniSTS:414073

REN89276 (e-PCR)
- UniSTS:414074

REN89277 (e-PCR)
- UniSTS:414075

ECD01647 (e-PCR)
- UniSTS:282748

REN89278 (e-PCR)
- UniSTS:414076

REN89279 (e-PCR)
- UniSTS:414077

REN89280 (e-PCR)
- UniSTS:414078

ECD02420 (e-PCR)
- UniSTS:283518

REN89281 (e-PCR)
- UniSTS:414079

REN89282 (e-PCR)
- UniSTS:414080

REN89283 (e-PCR)
- UniSTS:414081

REN89284 (e-PCR)
- UniSTS:414082

REN89285 (e-PCR)
- UniSTS:414083

REN89286 (e-PCR)
- UniSTS:414084

REN89287 (e-PCR)
- UniSTS:414085

ECD03208 (e-PCR)
- UniSTS:284293

REN89288 (e-PCR)
- UniSTS:414086

ECD03209 (e-PCR)
- UniSTS:284294

REN89289 (e-PCR)
- UniSTS:414087

REN89290 (e-PCR)
- UniSTS:414088

REN89291 (e-PCR)
- UniSTS:414089

REN89292 (e-PCR)
- UniSTS:414090

REN89293 (e-PCR)
- UniSTS:414091

ECD12996 (e-PCR)
- UniSTS:294027

REN89294 (e-PCR)
- UniSTS:414092

stSG603978 (e-PCR)
- UniSTS:447372

ECD01664 (e-PCR)
- UniSTS:282765

REN89295 (e-PCR)
- UniSTS:414093

stSG603979 (e-PCR)
- UniSTS:447373

REN89296 (e-PCR)
- UniSTS:414094

stSG603980 (e-PCR)
- UniSTS:447374

REN89297 (e-PCR)
- UniSTS:414095

REN89298 (e-PCR)
- UniSTS:414096

stSG603982 (e-PCR)
- UniSTS:447376

REN89299 (e-PCR)
- UniSTS:414097

REN89300 (e-PCR)
- UniSTS:414098

REN89301 (e-PCR)
- UniSTS:414099

REN89302 (e-PCR)
- UniSTS:414100

REN89303 (e-PCR)
- UniSTS:414101

stSG603987 (e-PCR)
- UniSTS:447381

REN89304 (e-PCR)
- UniSTS:414102

stSG603988 (e-PCR)
- UniSTS:447382

REN89305 (e-PCR)
- UniSTS:414103

REN89306 (e-PCR)
- UniSTS:414104

REN89307 (e-PCR)
- UniSTS:414105

REN89308 (e-PCR)
- UniSTS:414106

REN89309 (e-PCR)
- UniSTS:414107

REN89310 (e-PCR)
- UniSTS:414108

REN89311 (e-PCR)
- UniSTS:414109

REN89312 (e-PCR)
- UniSTS:414110

REN89313 (e-PCR)
- UniSTS:414111

REN89314 (e-PCR)
- UniSTS:414112

REN89315 (e-PCR)
- UniSTS:414113

REN89316 (e-PCR)
- UniSTS:414114

REN89317 (e-PCR)
- UniSTS:414115

REN89318 (e-PCR)
- UniSTS:414116

DXS1262 (e-PCR)
- UniSTS:148645

REN89319 (e-PCR)
- UniSTS:414117

REN89320 (e-PCR)
- UniSTS:414118

REN89321 (e-PCR)
- UniSTS:414119

REN89322 (e-PCR)
- UniSTS:414120

REN89323 (e-PCR)
- UniSTS:414121

REN89324 (e-PCR)
- UniSTS:414122

REN89325 (e-PCR)
- UniSTS:414123

REN89326 (e-PCR)
- UniSTS:414124

REN89327 (e-PCR)
- UniSTS:414125

REN89328 (e-PCR)
- UniSTS:414126

REN89329 (e-PCR)
- UniSTS:414127

REN89330 (e-PCR)
- UniSTS:414128

REN89331 (e-PCR)
- UniSTS:414129

REN89332 (e-PCR)
- UniSTS:414130

REN89333 (e-PCR)
- UniSTS:414131

REN89334 (e-PCR)
- UniSTS:414132

REN89335 (e-PCR)
- UniSTS:414133

REN89336 (e-PCR)
- UniSTS:414134

REN89337 (e-PCR)
- UniSTS:414135

REN89338 (e-PCR)
- UniSTS:414136

REN89339 (e-PCR)
- UniSTS:414137

REN89340 (e-PCR)
- UniSTS:414138

REN89341 (e-PCR)
- UniSTS:414139

REN89342 (e-PCR)
- UniSTS:414140

REN89343 (e-PCR)
- UniSTS:414141

REN89344 (e-PCR)
- UniSTS:414142

REN89345 (e-PCR)
- UniSTS:414143

REN89346 (e-PCR)
- UniSTS:414144

REN89347 (e-PCR)
- UniSTS:414145

REN89348 (e-PCR)
- UniSTS:414146

REN89349 (e-PCR)
- UniSTS:414147

REN89350 (e-PCR)
- UniSTS:414148

REN89351 (e-PCR)
- UniSTS:414149

REN89352 (e-PCR)
- UniSTS:414150

REN89353 (e-PCR)
- UniSTS:414151

REN89354 (e-PCR)
- UniSTS:414152

REN89355 (e-PCR)
- UniSTS:414153

REN89356 (e-PCR)
- UniSTS:414154

REN89357 (e-PCR)
- UniSTS:414155

REN89358 (e-PCR)
- UniSTS:414156

REN89359 (e-PCR)
- UniSTS:414157

REN89360 (e-PCR)
- UniSTS:414158

ECD04574 (e-PCR)
- UniSTS:285646

REN89361 (e-PCR)
- UniSTS:414159

REN89362 (e-PCR)
- UniSTS:414160

ECD01732 (e-PCR)
- UniSTS:282833

REN89363 (e-PCR)
- UniSTS:414161

ECD05610 (e-PCR)
- UniSTS:286673

REN89364 (e-PCR)
- UniSTS:414162

REN89365 (e-PCR)
- UniSTS:414163

REN89366 (e-PCR)
- UniSTS:414164

REN89367 (e-PCR)
- UniSTS:414165

ECD03805 (e-PCR)
- UniSTS:284885

REN89368 (e-PCR)
- UniSTS:414166

REN89369 (e-PCR)
- UniSTS:414167

REN89370 (e-PCR)
- UniSTS:414168

REN89371 (e-PCR)
- UniSTS:414169

REN89372 (e-PCR)
- UniSTS:414170

ECD00453 (e-PCR)
- UniSTS:281564

GDB:452893 (e-PCR)
- UniSTS:99294

ECD02527 (e-PCR)
- UniSTS:283622

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables Fc-gamma receptor I complex binding	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase C binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin crosslink formation	IDA Inferred from Direct Assay more info	PubMed
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation, intrinsic pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction organization	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic sequestering of protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in early endosome to late endosome transport	IEA Inferred from Electronic Annotation more info
involved_in epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in establishment of Sertoli cell barrier	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in formation of radial glial scaffolds	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in megakaryocyte development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within mitotic spindle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase I	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet aggregation	HMP more info	PubMed
involved_in positive regulation of actin filament bundle assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of platelet activation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to bicellular tight junction	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane repolarization during atrial cardiac muscle cell action potential	IC Inferred by Curator more info
involved_in regulation of membrane repolarization during cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in release of sequestered calcium ion into cytosol	NAS Non-traceable Author Statement more info	PubMed
involved_in semaphorin-plexin signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
involved_in tubulin deacetylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing, spreading of cells	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Myb complex	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in actin cytoskeleton	IC Inferred by Curator more info	PubMed
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	IEA Inferred from Electronic Annotation more info
located_in actin filament bundle	IEA Inferred from Electronic Annotation more info
located_in apical dendrite	IEA Inferred from Electronic Annotation more info
located_in axonal growth cone	IEA Inferred from Electronic Annotation more info
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cortical cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of glycoprotein Ib-IX-V complex	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleolus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in podosome	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: filamin-A

Names: actin binding protein 280; alpha-filamin; endothelial actin-binding protein; epididymis secretory sperm binding protein; filamin A, alpha; filamin-1; non-muscle filamin

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011506.2 RefSeqGene

Range

5005..31108

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1340

mRNA and Protein(s)

NM_001110556.2 → NP_001104026.1 filamin-A isoform 2

See identical proteins and their annotated locations for NP_001104026.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate in-frame exon and encodes a slightly longer protein isoform (2).

Source sequence(s)

AB191260, AL050396, BP235228, X53416

Consensus CDS

CCDS48194.1

UniProtKB/Swiss-Prot

E9KL45, P21333, Q5HY53, Q5HY55, Q8NF52

UniProtKB/TrEMBL

E9PHF0, Q60FE5

Related

ENSP00000358866.3, ENST00000369850.10

Conserved Domains (4) summary

smart00033
Location:172 → 264

CH; Calponin homology domain

smart00557
Location:1448 → 1542

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:44 → 148

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1445 → 1536

Filamin; Filamin/ABP280 repeat
NM_001456.4 → NP_001447.2 filamin-A isoform 1

See identical proteins and their annotated locations for NP_001447.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the predominant transcript and encodes a slightly shorter protein isoform (1).

Source sequence(s)

AB191260, AC245140, BC067111, BP235228, X53416

Consensus CDS

CCDS44021.1

UniProtKB/TrEMBL

Q60FE6

Related

ENSP00000353467.4, ENST00000360319.9

Conserved Domains (4) summary

smart00033
Location:172 → 264

CH; Calponin homology domain

smart00557
Location:1448 → 1542

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:44 → 148

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1445 → 1536

Filamin; Filamin/ABP280 repeat