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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 c... See more...
Aliases for FLNA Gene
Aliases for FLNA Gene
- Filamin A 2 3 5
- ABP-280 2 3 4
- Endothelial Actin-Binding Protein 3 4
- Actin Binding Protein 280 2 3
- Non-Muscle Filamin 3 4
- Filamin A, Alpha 2 3
- Alpha-Filamin 3 4
- Filamin-A 3 4
- Filamin-1 3 4
- FLN-A 3 4
- FLN1 3 4
- FLN 3 4
- Filamin A, Alpha (Actin Binding Protein 280) 2
- Epididymis Secretory Sperm Binding Protein 3
- Actin-Binding Protein 280 4
External Ids for FLNA Gene
- HGNC: 3754
- Entrez Gene: 2316
- Ensembl: ENSG00000196924
- OMIM: 300017
- UniProtKB: P21333
Previous HGNC Symbols for FLNA Gene
- FLN1
- FLN
- OPD2
- OPD1
Previous GeneCards Identifiers for FLNA Gene
- GC0XM147640
- GC0XM149957
- GC0XM151162
- GC0XM152044
- GC0XM153097
- GC0XM153230
- GC0XM153576
- GC0XM142154
Summaries for FLNA Gene
-
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]
GeneCards Summary for FLNA Gene
FLNA (Filamin A) is a Protein Coding gene. Diseases associated with FLNA include Melnick-Needles Syndrome and Otopalatodigital Syndrome, Type Ii. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is FLNC.
UniProtKB/Swiss-Prot Summary for FLNA Gene
-
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 FLNB 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). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863).
Additional gene information for FLNA Gene
- HGNC(3754)
- Entrez Gene(2316)
- Ensembl(ENSG00000196924)
- OMIM(300017)
- UniProtKB(P21333)
- Open Targets Platform(ENSG00000196924)
- Monarch Initiative
- Search for FLNA at DataMed
- Search for FLNA at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLNA Gene
Genomics for FLNA Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FLNA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FLNA on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLNA
- Top Transcription factor binding sites by QIAGEN in the FLNA gene promoter:
-
- AP-1
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
Genomic Locations for FLNA Gene
Genomic Locations for FLNA Gene
- chrX:154,348,524-154,374,638
- (GRCh38/hg38)
- Size:
- 26,115 bases
- Orientation:
- Minus strand
- chrX:153,576,892-153,603,006
- (GRCh37/hg19)
- Size:
- 26,115 bases
- Orientation:
- Minus strand
Genomic View for FLNA Gene
Genes around FLNA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq28 by HGNC
- Xq28 by Entrez Gene
- Xq28 by Ensembl
FLNA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FLNA Gene
Proteins for FLNA Gene
-
Protein details for FLNA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P21333-FLNA_HUMAN
- Recommended name:
- Filamin-A
- Protein Accession:
- P21333
- E9KL45
- Q5HY53
- Q5HY55
- Q8NF52
Protein attributes for FLNA Gene
- Size:
- 2647 amino acids
- Molecular mass:
- 280739 Da
- Quaternary structure:
-
- Homodimer. Interacts with PDLIM2 (By similarity). Interacts with RFLNA and RFLNB (By similarity). 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. Interacts (via N-terminus) with MIS18BP1 (via N-terminus). Interacts (via N-terminus) with TAF1B. Interacts with TMEM67 (via C-terminus) and MKS1. Interacts (via actin-binding domain) with MICALL2 (via CH domain). Interacts (via filamin repeat 5) with SYK; docks SYK to the plasma membrane (PubMed:20713593). Interacts (via filamin repeats 19 and 21) with DRD3; increased PKA-mediated phosphorylation at Ser-2152. Interacts (via filamin repeat 21) with MAS1, AGTR1 and ADRA1D; increases PKA-mediated phosphorylation of FLNA at Ser-2152 (PubMed:26460884). Interacts (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) with GP1BA (high affinity), ITGB7, ITGB2 and FBLIM1 (PubMed:19828450, PubMed:21524097, PubMed:25666618). Interacts with CEACAM1 (via cytoplasmic domain); inhibits cell migration and cell scattering by interfering with the interaction between FLNA and RALA (PubMed:16291724). Interacts with FOXC1 (PubMed:15684392). Interacts (via calponin-homology (CH) domain 1 and filamin repeat 24) with CRMP1; the interaction alters FLNA ternary structure and thus promotes FLNA dissociation from F-actin (PubMed:25358863). Interacts with DPYSL3/CRMP3 and DPYSL4/CRMP4 (PubMed:25358863).
- SequenceCaution:
-
- Sequence=BAC03408.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for FLNA Gene
Protein Expression for FLNA Gene
Selected DME Specific Peptides for FLNA Gene
- P21333:
-
- ELKVTVK
- GAGIGPT
Post-translational modifications for FLNA Gene
- Phosphorylation at Ser-2152 is negatively regulated by the autoinhibited conformation of filamin repeats 19-21. Ligand binding induces a conformational switch triggering phosphorylation at Ser-2152 by PKA.
- Phosphorylation extent changes in response to cell activation.
- Polyubiquitination in the CH1 domain by a SCF-like complex containing ASB2 leads to proteasomal degradation. Prior dissociation from actin may be required to expose the target lysines (PubMed:24052262). Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome (PubMed:26766444).
-
Ubiquitination at Lys42, Lys43, Lys135, Lys220, Lys367, Lys837, Lys906, Lys916, Lys1019, Lys1824, Lys1964, Lys2217, Lys2417, and Lys2621
- NX_P21333 (NX_P21333-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FLNA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Phospho-Filamin A (Ser2152) Antibody and Immunotag™ Filamin A Antibody
-
Custom Antibody ServicesOriGene Antibodies for FLNA
- Novus Biologicals Antibodies for FLNA
-
Abcam antibodies for FLNA
- Invitrogen Antibodies for FLNA (AFLGC-Flna)
- antibodies-online: Show 46 available Filamin A Antibodies ranked by validation data
- Compare Top Filamin A Antibodies
-
Recommended
- 99 WB Antibodies (anti-human)
- 48 IF (p) Antibodies (anti-human)
- 14 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 48 IF (p) Antibodies (anti-mouse)
- 48 WB Antibodies (anti-mouse)
- 13 IHC (p) Antibodies (anti-mouse)
- 48 IF (p) Antibodies (anti-rat)
- 45 WB Antibodies (anti-rat)
- 13 IHC (p) Antibodies (anti-rat)
-
Boster Bio Antibodies for FLNA
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLNA
Protein Products
-
OriGene Purified Proteins for FLNA
- Search Origene for MassSpec and Protein Over-expression Lysates for FLNA
- Origene Custom Protein Services for FLNA
- Novus Biologicals proteins for FLNA
Assay Products
- G Biosciences Immunotag™ Human FLNa (Filamin A, Alpha) ELISA
-
Boster Bio ELISA Kits for FLNA
-
Signalway ELISA kits for FLNA
Domains & Families for FLNA Gene
Gene Families for FLNA Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for FLNA Gene
- InterPro:
- Blocks:
-
- Actin-binding, actinin-type
- Calponin-like actin-binding
- ProtoNet:
Suggested Antigen Peptide Sequences for FLNA Gene
- GenScript: Design optimal peptide antigens:
-
- Filamin A (E9KL45_HUMAN)
- Non-muscle filamin (FLNA_HUMAN)
- FLNA protein (Q2VP91_HUMAN)
- Filamin A, alpha (Actin binding protein 280) (Q5HY89_HUMAN)
- Filamin A, alpha (Actin binding protein 280) (Q5HY90_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P21333UniProtKB/Swiss-Prot:
FLNA_HUMAN :- Comprised of a NH2-terminal actin-binding domain, 24 immunoglobulin-like internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. Filamin repeat 20 interacts with filamin repeat 21 masking the ligand binding site on filamin repeat 21, resulting in an autoinhibited conformation (PubMed:17690686). The autoinhibition can be relieved by ligands like ITGB7 or FBLIM1 (PubMed:21524097). Filamin repeats 19 and 21 can simultaneously engage ligands (PubMed:21524097).
- Belongs to the filamin family.
- Domain:
-
- Comprised of a NH2-terminal actin-binding domain, 24 immunoglobulin-like internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. Filamin repeat 20 interacts with filamin repeat 21 masking the ligand binding site on filamin repeat 21, resulting in an autoinhibited conformation (PubMed:17690686). The autoinhibition can be relieved by ligands like ITGB7 or FBLIM1 (PubMed:21524097). Filamin repeats 19 and 21 can simultaneously engage ligands (PubMed:21524097).
- Family:
-
- Belongs to the filamin family.
Function for FLNA Gene
Molecular function for FLNA Gene
- UniProtKB/Swiss-Prot 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 FLNB 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). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863).
- GENATLAS Biochemistry:
- 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
Enzyme Numbers (IUBMB) for FLNA Gene
Phenotypes From GWAS Catalog for FLNA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001664 | G protein-coupled receptor binding | IPI | 26460884 |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IEA,IPI | 4044584 |
| GO:0008134 | transcription factor binding | IPI | 15684392 |
Phenotypes for FLNA Gene
- MGI mutant phenotypes for FLNA:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FLNA:
Animal Models for FLNA Gene
- MGI Knock Outs for FLNA:
-
- Flna Flna<tm1.2Caw>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FLNA - Select products 50% OFF >
- * FLNA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FLNA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLNA
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLNA
miRNA for FLNA Gene
- miRTarBase miRNAs that target FLNA
-
- mmu-miR-15a-5p (MIRT011664)
- mmu-let-7b-5p (MIRT012103)
- mmu-miR-24-3p (MIRT013799)
- hsa-miR-155-5p (MIRT020648)
- hsa-miR-1-3p (MIRT023757)
- hsa-miR-7-5p (MIRT025777)
- hsa-miR-615-3p (MIRT039798)
- hsa-miR-92b-3p (MIRT040564)
- hsa-miR-193b-3p (MIRT041256)
- hsa-miR-484 (MIRT042059)
- hsa-miR-324-5p (MIRT043054)
- hsa-miR-331-3p (MIRT043388)
- hsa-miR-378a-3p (MIRT043955)
- hsa-miR-200c-3p (MIRT044384)
- hsa-miR-149-5p (MIRT045578)
- hsa-miR-23b-3p (MIRT046250)
- hsa-miR-222-3p (MIRT046811)
- hsa-miR-221-3p (MIRT046888)
- hsa-miR-196a-5p (MIRT048229)
- hsa-miR-92a-3p (MIRT049560)
- hsa-miR-31-5p (MIRT049870)
- hsa-miR-23a-3p (MIRT050388)
- hsa-miR-20a-5p (MIRT050582)
- hsa-miR-16-5p (MIRT051288)
- hsa-let-7b-5p (MIRT052184)
- hsa-miR-218-5p (MIRT440640)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLNA
- Browse OriGene Inhibitory RNA Products For FLNA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNA
Clone Products
- Applied Biological Materials (abm): Clones for FLNA - Select products 50% OFF >
- * FLNA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for FLNA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLNA
Cell Line Products
-
Horizon Cell Lines for FLNA
No data available for Transcription Factor Targets and HOMER Transcription for FLNA Gene
Localization for FLNA Gene
Subcellular locations from UniProtKB/Swiss-Prot for FLNA Gene
- Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Perikaryon. Cell projection, growth cone. Note=Colocalizes with CPMR1 in the central region of DRG neuron growth cone (By similarity). Following SEMA3A stimulation of DRG neurons, colocalizes with F-actin (By similarity). {ECO:0000250 UniProtKB:Q8BTM8}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Actin filaments (4)
- Cytosol (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IDA | 15684392 |
| GO:0005730 | nucleolus | IMP | 22307607 |
| GO:0005737 | cytoplasm | IEA,IDA | 15684392 |
| GO:0005829 | cytosol | IDA,TAS | -- |
Pathways & Interactions for FLNA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | Cell junction organization | ||
| 3 | Focal Adhesion |
.61
|
.61
|
| 4 | MAPK signaling pathway | ||
| 5 | MAPK Erk Pathway |
.32
|
|
Pathways by source for FLNA Gene
2 Sino Biological pathways for FLNA Gene
8 BioSystems pathways for FLNA Gene
12 Reactome pathways for FLNA Gene
4 KEGG pathways for FLNA Gene
6 GeneGo (Thomson Reuters) pathways for FLNA Gene
- Cytoskeleton remodeling Integrin outside-in signaling
- Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
- Cytoskeleton remodeling_RalA regulation pathway
- Regulation of CFTR activity (norm and CF)
- wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
3 Qiagen pathways for FLNA Gene
- Antioxidant Action of Vitamin-C
- ILK Signaling
- SMAD Signaling Network
1 Cell Signaling Technology pathway for FLNA Gene
Interacting Proteins for FLNA Gene
Selected Interacting proteins:
P21333-FLNA_HUMAN
ENSP00000358866
for FLNA Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FLNA
SIGNOR curated interactions for FLNA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0007195 | adenylate cyclase-inhibiting dopamine receptor signaling pathway | IMP | 10692483 |
| GO:0016479 | negative regulation of transcription by RNA polymerase I | IDA | 22307607 |
| GO:0021943 | formation of radial glial scaffolds | IEA | -- |
| GO:0021987 | cerebral cortex development | IEA | -- |
Drugs & Compounds for FLNA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| (5r)-5-Amino-6-Hydroxyhexylcarbamic Acid | Experimental | Pharma | Target | 0 | ||
| 2-Phenylethanol | Experimental | Pharma | Target | 9 | ||
| Diethyl 4-Methylbenzylphosphonate | Experimental | Pharma | Target, Target | 0 | ||
| Dihydroartemisinin | Experimental, Investigational | Pharma | Target, ligand | 115 | ||
| Diisopropyl methylphosphonate | Experimental | Pharma | Target, Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for FLNA Gene
mRNA/cDNA for FLNA Gene
- 2 REFSEQ mRNAs :
- 25 NCBI additional mRNA sequence :
- 19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000360319 8278 nts (view in UCSC)
- ENST00000369850 8507 nts (view in UCSC)
- ENST00000369856 8240 nts (view in UCSC)
- ENST00000415241 704 nts (view in UCSC)
- ENST00000420627 8225 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FLNA - Select products 50% OFF >
- * FLNA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FLNA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLNA
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLNA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLNA
- Browse OriGene Inhibitory RNA Products For FLNA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNA
Clone Products
- Applied Biological Materials (abm): Clones for FLNA - Select products 50% OFF >
- * FLNA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for FLNA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLNA
| 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 | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 40b | ^ | 41 | ^ | 42a | · | 42b | ^ | 43a | · | 43b | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b | ^ | 47 | ^ | 48 | ^ | 49a | · | 49b | ^ | 50 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||
| SP13: |
Relevant External Links for FLNA Gene
- GeneLoc Exon Structure for
- FLNA
Expression for FLNA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for FLNA Gene
This gene is overexpressed in Artery - Tibial (x5.6), Esophagus - Gastroesophageal Junction (x4.9), Colon - Sigmoid (x4.7), Esophagus - Muscularis (x4.7), and Artery - Aorta (x4.1).
This gene is overexpressed in Colon muscle (8.5), Cardia (7.7), Bone marrow stromal cell (7.1), and Urinary Bladder (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLNA Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLNA
SOURCE GeneReport for Unigene cluster for FLNA Gene:
Hs.195464mRNA Expression by UniProt/SwissProt for FLNA Gene:
P21333-FLNA_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for FLNA Gene
- Gall bladder(5)
- Heart(5)
- Intestine(5)
- Liver(5)
- Blood(4.8)
- Pancreas(4.8)
- Skin(4.8)
- Lung(4.8)
- Spleen(4.6)
- Nervous system(4.6)
- Eye(4.4)
- Kidney(4.4)
- Adrenal gland(4.2)
- Bone(4.1)
- Stomach(4)
- Muscle(3.6)
- Thyroid gland(3.4)
- Lymph node(3.3)
- Bone marrow(3.2)
- Urine(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FLNA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- sinus
- skull
- tongue
- tooth
- vocal cord
Thorax:
- aorta
- bronchus
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- anus
- pelvis
- penis
- rectum
- testicle
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for FLNA
Gene Expression Assay Products
Orthologs for FLNA Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | FLNA 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FLNA 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FLNA 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FLNA 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Flna 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Flna 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FLNA 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | FLNA 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.3723 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | flna 31 |
|
OneToOne | |
| wufb98b06 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004335 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | cher 30 31 32 |
|
ManyToMany | |
| CG5984 31 |
|
ManyToMany | |||
| jbug 31 32 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | fln-1 30 31 |
|
ManyToMany | |
| C23F12.2 32 |
|
|
|||
| Y66H1B.2 32 |
|
|
|||
| Y66H1B.3 32 |
|
|
|||
| fln-2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for FLNA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FLNA Gene
- ENSEMBL:
- Gene Tree for FLNA (if available)
- TreeFam:
- Gene Tree for FLNA (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FLNA: view image
Paralogs for FLNA Gene
Paralogs for FLNA Gene
(12) SIMAP similar genes for FLNA Gene using alignment to 12 proteins:
- FLNA_HUMAN
- A6NDY9_HUMAN
- E9PHF0_HUMAN
- F8WE98_HUMAN
- H0Y5C6_HUMAN
- H0Y5F3_HUMAN
- H7C2E7_HUMAN
- Q2VP91_HUMAN
- Q5HY54_HUMAN
- Q60FE5_HUMAN
- Q60FE6_HUMAN
- Q6NXF2_HUMAN
Pseudogenes.org Pseudogenes for FLNA Gene
Variants for FLNA Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLNA Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 11779 | Pathogenic: Cardiac valvular dysplasia, X-linked | 154,361,812(-) | GGGTATTTAGAGACAC | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 626251 | Likely Pathogenic: Periventricular nodular heterotopia 1 | 154,366,417(-) | G/C | NONSENSE | |
| 635974 | Pathogenic: Cardiac valvular dysplasia, X-linked | 154,364,720(-) | C/G | SPLICE_ACCEPTOR_VARIANT | |
| 635975 | Likely Pathogenic: Cardiac valvular dysplasia, X-linked | 154,358,294(-) | C/T | MISSENSE_VARIANT | |
| 636334 | Uncertain Significance: not provided | 154,353,293(-) | T/C | INTRON_VARIANT |
Residual Variation Intolerance Score:
0.444% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.61;
72.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FLNA Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLNA Gene
Disorders for FLNA Gene
(122) MalaCards diseases for FLNA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melnick-needles syndrome |
|
|
| otopalatodigital syndrome, type ii |
|
|
| otopalatodigital syndrome, type i |
|
|
| cardiac valvular dysplasia, x-linked |
|
|
| terminal osseous dysplasia |
|
Search FLNA in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FLNA_HUMAN- Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]: 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. {ECO:0000269 PubMed:11532987, ECO:0000269 PubMed:11914408, ECO:0000269 PubMed:15249610, ECO:0000269 PubMed:15668422, ECO:0000269 PubMed:15994863, ECO:0000269 PubMed:16299064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Otopalatodigital syndrome 1 (OPD1) [MIM:311300]: 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. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:15940695, ECO:0000269 PubMed:27193221}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Otopalatodigital syndrome 2 (OPD2) [MIM:304120]: 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. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:17431908, ECO:0000269 PubMed:27193221}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]: An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:16596676, ECO:0000269 PubMed:27193221}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Melnick-Needles syndrome (MNS) [MIM:309350]: 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. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:27193221}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (IPOX) [MIM:300048]: A disease 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. {ECO:0000269 PubMed:17357080}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- FG syndrome 2 (FGS2) [MIM:300321]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269 PubMed:17632775}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Terminal osseous dysplasia (TOD) [MIM:300244]: A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. {ECO:0000269 PubMed:20598277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. {ECO:0000269 PubMed:17190868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Defects in FLNA may be a cause of macrothrombocytopenia, a disorder characterized by subnormal levels of blood platelets. Blood platelets are abnormally enlarged (PubMed:21960593). {ECO:0000269 PubMed:21960593}.
- Congenital short bowel syndrome, X-linked (CSBSX) [MIM:300048]: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. {ECO:0000269 PubMed:23037936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FLNA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FLNA Gene
Publications for FLNA Gene
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PMID: 12612583) Robertson SP … OPD-spectrum Disorders Clinical Collaborative Group (Nature genetics 2003) 2 3 4 23
- Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PMID: 17190868) Kyndt F … Schott JJ (Circulation 2007) 3 4 23
- Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. (PMID: 17431908) Mariño-Enríquez A … Rodríguez JI (American journal of medical genetics. Part A 2007) 3 4 23
- Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. (PMID: 16596676) Zenker M … Horn D (American journal of medical genetics. Part A 2006) 3 4 23
- Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (PMID: 15994863) Gómez-Garre P … Serratosa JM (Journal of medical genetics 2006) 3 4 23
ExternalLinks
Products for FLNA Gene
- Custom Antibody ServicesOriGene Antibodies for FLNA
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- High-throughput Antibody Production Service
- Protein Production Service
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- Novus Biologicals Antibodies for FLNA
- Novus Biologicals proteins for FLNA
- Browse Antibodies
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- Invitrogen Antibodies for FLNA (AFLGC-Flna)
- VectorBuilder Custom and pre-made DNA vectors for FLNA (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FLNA (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FLNA (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FLNA CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FLNA
- Addgene plasmids for FLNA
- antibodies-online: Show 46 available Filamin A Antibodies ranked by validation data
- Compare Top Filamin A Antibodies
- Recommended
- 99 WB Antibodies (anti-human)
- 48 IF (p) Antibodies (anti-human)
- 14 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 48 IF (p) Antibodies (anti-mouse)
- 48 WB Antibodies (anti-mouse)
- 13 IHC (p) Antibodies (anti-mouse)
- 48 IF (p) Antibodies (anti-rat)
- 45 WB Antibodies (anti-rat)
- 13 IHC (p) Antibodies (anti-rat)
- antibodies-online: Show 35 available Filamin A Elisa Kits ranked by validation data
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- antibodies-online: Show 3 available Filamin A Proteins ranked by validation data
- Compare Top Filamin A Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for FLNA
- Search Santa Cruz Biotechnology (SCBT) for FLNA siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FLNA
- Horizon Cell Lines for FLNA
- Browse GeneCopoeia Cell Lines
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNA
Sources for FLNA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4)