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FLNA Gene

protein-coding GIFtS: 69

GC0XM153230

filamin A, alpha (actin binding protein 280)
(Previous names: filamin A, alpha (actin-binding protein-280) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FLN1, FLN, OPD2, OPD1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ABP-280 ^¹, ², ³
ABPX ^², ⁵
Alpha-filamin ^³
DKFZp434P031 ^²
FLN ^², ³
FLN1 ^², ³, ⁵
FMD ^², ⁵
Filamin-1 ^³
MNS ^², ⁵
NHBP ^², ⁵
OPD ^²
OPD1 ^², ⁵
OPD2 ^², ⁵
OTTHUMP00000024320 ^²

Descriptions
Actin-binding protein 280 ^³
Endothelial actin-binding protein ^², ³
Non-muscle filamin ^², ³
filamin 1 ^²
filamin A, alpha ^²
filamin A, alpha (actin binding protein 280) ^²
filamin A, alpha (actin-binding protein-280) ^¹

External Ids
HGNC: 3754¹
Entrez Gene: 2316²
UniProtKB: P21333³
Ensembl: ENSG00000196924⁷

Search outside databases for aliases for FLNA gene

Previous GC identifers: GC0XM147640 GC0XM149957 GC0XM151162 GC0XM152044 GC0XM153097

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FLNA:

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.

UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333

Function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane

glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a

scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow

neuroblast migration from the ventricular zone into the cortical plate. Tethers cell

surface-localized furin, modulates its rate of internalization and directs its intracellular

trafficking (By similarity)

Gene Wiki entry for FLNA (Filamin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the FLNA gene

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

FLNA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM153230: (about GC identifiers)

Start:	153,230,091 bp from pter
End:	153,256,188 bp from pter
Size:	26,098 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333 (See protein sequence)

Recommended Name: Filamin-A

Size: 2647 amino acids; 280739 Da

Subunit: Interacts with PDLIM2 (By similarity). Homodimer. Interacts with FCGR1A, FLNB, FURIN,

HSPB7, INPPL1, KCND2, MYOT, MYOZ1, ARHGAP24, PSEN1, PSEN2 and ECSCR. Interacts also with various

other binding partners in addition to filamentous actin

Subcellular location: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton

PDB structures from and Proteopedia :

2AAV (3D)

2BP3 (3D)

2BRQ (3D)

2J3S (3D)

2JF1 (3D)

2K3T (3D)

2W0P (3D)

3CNK (3D)

Secondary accessions: Q8NF52

Alternative splicing: 2 isoforms: P21333-1 P21333-2

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylation extent

changes in response to cell activation¹

The N-terminus is blocked¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001104026.1 NP_001447.2

ENSEMBL proteins:

ENSP00000358863 ENSP00000353467 ENSP00000358879 ENSP00000358866 ENSP00000358870 ENSP00000358872

ENSP00000358868

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Filamin A)
	Human Recombinant Proteins from Abnova (FLNA)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	15684392
GO:0005737	cytoplasm	IDA	15684392
GO:0005886	plasma membrane	IDA	18322202
GO:0015629	actin cytoskeleton	IC	2391361

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Antibodies for FLNA:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of FLNA
	Sigma-Aldrich Antibodies for FLNA
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Filamin A), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (FLNA)
	Novus Biologicals Antibodies for FLNA

Assays for FLNA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P21333

ProtoNet protein and cluster: P21333

2 Blocks protein families:

IPB001589 Actin-binding

IPB001715 Calponin-like actin-binding

UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333

Domain: Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two

hinge regions. Repeat 24 and the second hinge domain are important for dimer formation

Similarity: Belongs to the filamin family

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 24 filamin repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FLNA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FLNA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001456

Applied Biosystems Silencer® siRNAs for FLNA

Sigma-Aldrich siRNA for FLNA

Sigma-Aldrich shRNA Panels and shRNA for FLNA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001110556
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001110556
untagged cDNA clones in CMV expression vector (see all 3): BC014654

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001110556

UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333

Function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane

glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a

scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow

neuroblast migration from the ventricular zone into the cortical plate. Tethers cell

surface-localized furin, modulates its rate of internalization and directs its intracellular

trafficking (By similarity)

Genatlas biochemistry entry for FLNA:

filamin A,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,highly expressed

in the developing cortex and required for locomotion of many cell types

15/18 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Flna) (see all 18 ):

	behavior/neurological	craniofacial	digestive/alimentary	embryogenesis
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	nervous system	reproductive system

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IPI	3138234
GO:0004871	signal transducer activity	IMP	12761501
GO:0008134	transcription factor binding	IPI	15684392
GO:0031267	small GTPase binding	IDA	10051605
GO:0034988	Fc-gamma receptor I complex binding	IDA	1833070

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for FLNA (Your Favorite Gene powered by Ingenuity)

Virus Entry via Endocytic Pathways
Caveolar-mediated Endocytosis

GeneDecks FLNA for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for FLNA

5/91 Interacting proteins for FLNA (P21333^{1, 2} ENSP00000358879³) via UniProtKB, MINT, and/or STRING (see all 91 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ITGB7	P26010², ENSP00000267082³	MINT-51374 MINT-5226955 MINT-5226910 MINT-5226942 MINT-5226916 MINT-5226895 MINT-5226997 STRING (score=.999)
ITGB1	P05556², ENSP00000364094³	MINT-5226973 MINT-51379 MINT-5227032 STRING (score=.997)
PSEN1	P49768², ENSP00000326366³	MINT-17725 MINT-17726 STRING (score=.92)
PSEN2	P49810², ENSP00000355746³	MINT-13995 MINT-13994 STRING (score=.746)
ITGB4	P16144², ENSP00000200181³	MINT-51381 STRING (score=.936)

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5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007195	inhibition of adenylate cyclase activity by dopamine receptor signaling pathway	IMP	10692483
GO:0031532	actin cytoskeleton reorganization	IDA	10051605
GO:0034394	protein localization at cell surface	IDA	18322202
GO:0042177	negative regulation of protein catabolic process	IMP	18322202
GO:0042993	positive regulation of transcription factor import into nucleus	IMP	15684392

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FLNA
5 Novoseek chemical compound relationships for FLNA gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	24.20	9	15566962 (2), 12791664 (2), 12734206 (1), 16849481 (1) (see all 5)
phenylalanine	0.00	1	17431908 (1)
oligonucleotide	0.00	1	16797880 (1)
lipid	0.00	6	11482904 (2), 15566962 (1), 17060905 (1), 12734206 (1) (see all 5)
calcium	0.00	3	10658206 (1), 15837785 (1)

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2 PharmGKB drug compound relationships for FLNA gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
mercaptopurine	PD FA GN	12704389
methotrexate	PD FA GN	12704389

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FLNA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FLNA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001456

Sigma-Aldrich siRNA for FLNA

Sigma-Aldrich shRNA Panels and shRNA for FLNA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001110556 NM_001456

REFSEQ mRNAs for FLNA gene (2 alternative transcripts):

NM_001110556.1 NM_001456.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001110556 NM_001456

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001110556
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001110556
                                 untagged cDNA clones in CMV expression vector (see all 3): BC014654

Additional cDNA sequence:

AB191259.1 AB191260.1 AB371574.1 AB371575.1 AB371576.1 AB371577.1 AB371578.1 AB371579.1

AK074048.1 AK090427.1 AK300165.1 AK304255.1 AL050396.1 AL157419.1 BC014654.1 BC028089.1

BC041179.1 BC067111.1 BC109289.1 CR608106.1 CR614119.1 CR625058.1 EF212281.1 X53416.1

24/64 DOTS entries (see all 64 ):

DT.91982411 DT.95298941 DT.91724551 DT.100671885 DT.450890 DT.91982387 DT.100671880 DT.121294094

DT.91982791 DT.91982601 DT.95369157 DT.121294182 DT.121293747 DT.92033161 DT.98083413 DT.100671893

DT.121294208 DT.121293852 DT.91982328 DT.97786031 DT.91979279 DT.121294497 DT.95369177 DT.91982036

24/158 AceView cDNA sequences (see all 158 ):

BP364880 AI902801 BP364608 CK430947 BP354105 CD675561 BP365171 BP354093

CN483495 BU154671 BP354440 BF734671 BP363321 CA397971 BP363238 CD676237

CN483857 BP355978 BF846254 BF870974 BF870753 AA593496 BG979500 BV196233

highest scoring ESTs for FLNA:

X53416 AA026885 AA026900 AA029040 AA031846 AA032073 AA034992 AA040522 AA062914 AA076203

Unigene Cluster for FLNA:

Filamin A, alpha (actin binding protein 280)

Hs.195464 [show with all ESTs]

Unigene Representative Sequence: NM_001110556

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for FLNA (see all 13 )

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21a	·
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	21b	^	22a	·	22b	^	23	^	24a	·	24b	^	25a	·	25b	^	26a	·	26b	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34a	·	34b	^	35	^	36	^	37	^	38a	·	38b	^	39	^	40a	·
SP1:
SP2:																											-
SP3:																											-
SP4:																			-		-		-		-		-
SP5:																											-				-

ExUns:	40b	^	41	^	42a	·	42b	^	43a	·	43b	^	44	^	45	^	46a	·	46b	^	47	^	48	^	49a	·	49b	^	50
SP1:	-						-						-
SP2:	-						-						-
SP3:	-						-
SP4:	-						-
SP5:

About this scheme

ECgene alternative splicing isoforms for FLNA

7 Ensembl transcripts including schematic representations:

ENST00000344736 ENST00000360319 ENST00000369863 ENST00000369850 ENST00000369854 ENST00000369856

ENST00000369852

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

FLNA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FLNA

¹ / ² / ³

10 probe-sets matching FLNA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
75220_s_at²^{, 3}	U95-D	1	1.00	1.00	0.90	1.29	AW005498	0.60	1.00	0.82	1
32749_s_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.91	AL050396	0.60	1.00	0.82	1
89945_s_at²^{, 3}	U95-D	1	1.00	1.00	0.99	1.20	AL048339	0.60	1.00	0.82	1
32750_r_at²^{, 3}	U95-A	2	1.00	0.97	0.93	0.60	X53416	1.00	1.00	1.00	1
200859_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001456	0.60	1.00	0.82	1
213746_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW051856	0.40	1.00	0.76	1
214752_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI625550	0.20	1.00	0.72	1
200859_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
213746_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214752_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FLNA for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCCCAAGGAC

SOURCE GeneReport for Unigene cluster: Hs.195464
Expression variation in blood from EXPOLDB for FLNA
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333
Tissue specificity: Ubiquitous

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for FLNA gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FLNA¹	--	filamin A, alpha (actin binding protein 280)	90.94(n) 97.95(a)	481084 XM_862390.1 XP_867483.1
cow (Bos taurus)	FLNA¹	--	filamin A, alpha (actin binding protein 280)	89.49(n) 96.51(a)	281165 XM_614269.3 XP_614269.3
rat (Rattus norvegicus)	Flna¹	--	filamin, alpha	87.37(n) 97.35(a)	293860 XM_238167.4 XP_238167.4
mouse (Mus musculus)	Flna^{1, 5}	X (29.80 cM)⁵	filamin, alpha^{1, 5}	87.33(n)¹ 97.31(a)¹	192176¹ NM_010227.2¹ NP_034357.2¹ AF034129⁵ AF119149⁵ (see all 23)
zebrafish (Danio rerio)	wufb98b06²	--	Transcribed sequence with moderate similarity to protein more	84.91(n)	CA471662.1

About this table Species with no ortholog for FLNA

ENSEMBL Gene Tree for FLNA

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for FLNA gene

FLNB² SYNE1² FLNC²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/153 NCBI SNPs in FLNA are shown (see all 153 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 56)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs17091204^1,2	C,F,H	153243042(+)	`CACCCG/AAGGGG`	2	L/S	mis¹ ese³		12	NA EU EA WA	929
	rs7891985^1,2	A,F,H	153229944(+)	`GATGGT/CGCCTT`	1	--	ng5¹		4	EU EA WA	418
	rs35504556^1,2	C,F	153240855(-)	`TGAGGC/GTGGCA`	2	A/G	mis¹		5	NA EU EA WA	284
	rs743546^1,2	H	153246768(-)	`GCTTCG/TAGTAT`	2	E/X	non¹ ese³		7	EA NA EU WA	442
	rs3819330^1,2	H	153243096(+)	`TTGATT/CTGACT`	2	R/K	mis¹		4	EU EA WA	418
--	rs730319^1,2	H	153246734(-)	`TATCGT/CCACCA`	2	A/V	mis¹ ese³		4	EU EA WA	362
	rs1064817^1,2	H	153247990(-)	`GCCCCT/CTCGAG`	2	L/F	mis¹ ese³		4	EU EA WA	366
	rs1061998^1,2	A	153230347(-)	`GCCCTC/TTTCCC`	2	--	ut3¹		1	MN	184
--	rs11541264^1,2	H	153234625(-)	`TGGTCA/GGGGCC`	2	Q/R	mis¹ ese³		3	EA WA	286
--	rs17091372^1,2	F	153230259(+)	`TGGGGA/GGGCAG`	2	--	ut3¹ ese³		1	MN	184

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HapMap Linkage Disequilibrium images for FLNA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 300017 disorders: 300049 311300 304120 304120 309350 300049 300537

UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333

Defects in FLNA are the cause of periventricular nodular heterotopia type 1 (PVNH1)

[MIM:300049]; also called nodular heterotopia, bilateral periventricular (NHBP or BPNH). PVNH is a

developmental disorder characterized by the presence of periventricular nodules of cerebral gray

matter, resulting from a failure of neurons to migrate normally from the lateral ventricular

proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant

form. Heterozygous females have normal intelligence but suffer from seizures and various

manifestations outside the central nervous system, especially related to the vascular system.

Hemizygous affected males die in the prenatal or perinatal period

Defects in FLNA are the cause of periventricular nodular heterotopia type 4 (PVNH4)

[MIM:300537]; also known as periventricular heterotopia Ehlers-Danlos variant. PVNH4 is

characterized by nodular brain heterotopia, joint hypermobility and development of aortic

dilatation in early adulthood

Defects in FLNA are the cause of otopalatodigital syndrome type 1 (OPD1) [MIM:311300].

OPD1 is an X-linked dominant multiple congenital anomalies disease mainly characterized by a

generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical

facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as

oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome

(MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the

modulation of cell shape and migration. FLNA is a widely expressed protein that regulates

re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor

complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles

causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female

carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a

similar phenotypic spectrum

Defects in FLNA are the cause of otopalatodigital syndrome type 2 (OPD2) [MIM:304120];

also known as cranioorodigital syndrome. OPD2 is a congenital bone disorder that is characterized

by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate,

posterior fossa brain anomalies, omphalocele and cardiac defects

Defects in FLNA are the cause of frontometaphyseal dysplasia (FMD) [MIM:305620]. FMD is a

congenital bone disease characterized by supraorbital hyperostosis, deafness and digital anomalies

Defects in FLNA are the cause of Melnick-Needles syndrome (MNS) [MIM:309350]. MNS is a

severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks,

micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature

of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull

Defects in FLNA are associated with cerebrofrontofacial syndrome [MIM:608578]. This

syndrome consists of a phenotype of male PVNH, with relatively normal development, no epilepsy or

other neurological abnormality, severe constipation, and facial dysmorphism and without a

discernible skeletal phenotype

Defects in FLNA are the cause of X-linked congenital idiopathic intestinal

pseudoobstruction (CIIPX) [MIM:300048]. CIIPX is characterized by a severe abnormality of

gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers.

Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any

mechanical lesion

10/23 Novoseek disease relationships for FLNA gene (see all 23 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
periventricular nodular heterotopia	96.97	43	15249610 (4), 15459826 (2), 16684786 (2), 14988809 (2) (see all 24)
frontometaphyseal dysplasia	90.99	6	17431908 (1), 12612583 (1), 14988809 (1), 16596676 (1) (see all 5)
melnick-needles syndrome	85.48	2	12612583 (1), 17159511 (1)
infantile spasms	65.46	4	16417552 (3)
skeletal dysplasia	62.61	4	16538226 (1), 14988809 (1), 16596676 (1)
ehlers-danlos syndrome	50.21	2	15668422 (1), 15994863 (1)
epilepsy	49.18	5	15459826 (1), 10477759 (1), 11914408 (1), 16684786 (1) (see all 5)
melanoma	48.81	29	11706047 (2), 18404377 (2), 10600767 (1), 15684392 (1) (see all 19)
mild mental retardation	47.20	1	11914408 (1)
skeletal disorder	35.49	2	15684392 (1)

About this table

1 PharmGKB disease relationship for FLNA gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	PD FA GN	12704389

About this table

GeneTests: FLNA

Otopalatodigital Spectrum Disorders

Human Gene Mutation Database: FLNA

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/232 PubMed articles for FLNA gene (see all 232 ):

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PubMed id 12612583)^{1, 2, 3, 4} Robertson S.P....Wilkie A.O. (2003)
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (PubMed id 11532987)^{1, 3, 4} Sheen V.L.... Walsh C.A. (2001)
Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. (PubMed id 12393796)^{1, 3, 4} Sheen V.L.... Walsh C.A. (2002)
Filamin A mutations cause periventricular heterotopia with Ehlers- Danlos syndrome. (PubMed id 15668422)^{1, 3, 4} Sheen V.L.... Walsh C.A. (2005)
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (PubMed id 15994863)^{1, 3, 4} Gomez-Garre P....Serratosa J.M. (2006)
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. (PubMed id 7689010)^{1, 3, 4} Maestrini E.... Toniolo D. (1993)
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. (PubMed id 16596676)^{1, 3, 4} Zenker M.... Horn D. (2006)
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (PubMed id 15249610)^{1, 3, 4} Guerrini R.... Parrini E. (2004)
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. (PubMed id 8406501)^{1, 2, 3} Gorlin J.B....Kwiatkowski D.J. (1993)
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. (PubMed id 2391361)^{1, 3, 4} Gorlin J.B.... Hartwig J.H. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 2316	HGNC: 3754	AceView: FLNA	Ensembl:ENSG00000196924	euGenes: HUgn2316
ECgene: FLNA	H-InvDB: FLNA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for FLNA	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=FLNA

Licensable Technologies for FLNA
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for FLNA:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for FLNA-related products

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FLNA Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for FLNA

Summaries
for FLNA

Genomic Location
for FLNA

Proteins
for FLNA

Protein Domains/
Families
for FLNA

Gene Function
for FLNA

Pathways & Interactions
for FLNA

Drugs & Compounds
for FLNA

Transcripts
for FLNA

Expression
for FLNA

Orthologs
for FLNA

Paralogs
for FLNA

SNPs/Variants
for FLNA

Disorders & Mutations
for FLNA

Medical News
for FLNA

Publications
for FLNA

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FLNA (Gene Symbol)
ABP-280
ABPX
Alpha-filamin
DKFZp434P031
FLN
FLN1
FMD
Filamin-1
MNS
NHBP
OPD
OPD1
OPD2
OTTHUMP00000024320
Actin-binding protein 280
Endothelial actin-binding protein
Non-muscle filamin
filamin 1
filamin A, alpha
filamin A, alpha (actin binding protein 280)
filamin A, alpha (actin-binding protein-280)

FLNA Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor FLNA

Summariesfor FLNA

Genomic Locationfor FLNA

Proteinsfor FLNA

Protein Domains/Familiesfor FLNA

Gene Functionfor FLNA

Pathways & Interactionsfor FLNA

Drugs & Compoundsfor FLNA

Transcriptsfor FLNA

Expression for FLNA

Orthologsfor FLNA

Paralogsfor FLNA

SNPs/Variantsfor FLNA

Disorders & Mutationsfor FLNA

Medical Newsfor FLNA

Publicationsfor FLNA

Search for FLNA

Genome Databases showing FLNA

Other Databases showing FLNA

Specialized Databases showing FLNA

Licensable Technologiesfor FLNA

Servicesfor FLNA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FLNA

Summaries
for FLNA

Genomic Location
for FLNA

Proteins
for FLNA

Protein Domains/
Families
for FLNA

Gene Function
for FLNA

Pathways & Interactions
for FLNA

Drugs & Compounds
for FLNA

Transcripts
for FLNA

Expression
for FLNA

Orthologs
for FLNA

Paralogs
for FLNA

SNPs/Variants
for FLNA

Disorders & Mutations
for FLNA

Medical News
for FLNA

Publications
for FLNA

Licensable Technologies
for FLNA

Services
for FLNA