FLNA Gene
protein-coding GIFtS: 67
GCID: GC0XM153576
|
|
filamin A, alpha(Previous names: filamin A, alpha (actin binding protein 280) )
(Previous symbols: FLN1, FLN, OPD2, OPD1)
| |
Aliases
for FLNA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Filamin A, Alpha1 2 | | ABPX2 | | FLN11 2 3 5 | | OPD2 | | ABP-2801 2 3 | | XLVD2 | | FLN1 2 3 | | XMVD2 | | OPD11 2 5 | | Actin Binding Protein 2802 | | OPD21 2 5 | | Alpha-Filamin1 | | Endothelial Actin-Binding Protein2 3 | | Filamin-13 | | Non-Muscle Filamin2 3 | | Filamin-A1 | | FLN-A2 3 | | Alpha-Filamin1 | | CVD12 5 | | Filamin-13 | | FMD2 5 | | Actin-Binding Protein 2803 | | MNS2 5 | | EC 2.1.1.438 | | NHBP2 5 | | EC 6.3.4.48 | | Filamin A, Alpha (Actin Binding Protein 280)1 | | |
Export aliases for FLNA gene to outside databasesPrevious GC identifers: GC0XM147640 GC0XM149957 GC0XM151162 GC0XM152044 GC0XM153097 GC0XM153230 GC0XM142154 |
Summaries
for FLNA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FLNA:
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filamentsto membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cellshape 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), andX-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding differentisoforms have been found for this gene.(provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333Function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchorsvarious transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmicsignaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the corticalplate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellulartrafficking (By similarity). Involved in ciliogenesis
Gene Wiki entry for FLNA
|
Genomic Views
for FLNA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167198.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FLNA gene promoter:
AP-2alpha isoform 3 AP-1 AP-2alpha isoform 2 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for FLNA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLNA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28FLNA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM153576: view genomic region
(about GC identifiers)
Start:
|
153,576,892 bp from pter |
End:
|
153,603,006 bp from pter |
Size:
|
26,115 bases |
Orientation:
|
minus strand |
|
Proteins
for FLNA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 tofilamentous actin. Interacts (via N-terminus) with MIS18BP1 (via N-terminus). Interacts (via N-terminus) with TAF1B.Interacts with TMEM67 (via C-terminus) and MKS1
Subcellular location: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton
Sequence caution: Sequence=BAC03408.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/16 PDB 3D structures from  and Proteopedia  for FLNA (see all 16):2AAV (3D)
2BP3 (3D)
2BRQ (3D)
2J3S (3D)
2JF1 (3D)
2K3T (3D)
Secondary accessions: E9KL45 Q5HY53 Q5HY55 Q8NF52Alternative splicing: 2 isoforms: P21333-1 P21333-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for FLNA: NX_P21333
Post-translational modifications:
Phosphorylation extent changes in response to cell activation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P21333
2 DME Specific Peptides for FLNA (P21333)
FLNA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001104026.1 NP_001447.2
ENSEMBL proteins: ENSP00000408921 ENSP00000353467 ENSP00000358866 ENSP00000358863 ENSP00000397824 ENSP00000405458 ENSP00000398215 ENSP00000416926 ENSP00000358872 Reactome Protein details: P21333
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
FLNA for ontologies About GeneDecksing
FLNA Antibody Products:
Assay Products for FLNA: |
Protein
Domains /
Families
for FLNA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FLNA for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P21333ProtoNet protein and cluster: P21333 2 Blocks protein families: IPB001589 Actin-binding IPB001715 Calponin-like actin-binding
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333Domain: Comprised of a NH2-terminal actin-binding domain, 24 immunoglobulin-like internally homologous repeats and twohinge regions. Repeat 24 and the second hinge domain are important for dimer formationSimilarity: Belongs to the filamin familySimilarity: Contains 1 actin-binding domainSimilarity: Contains 2 CH (calponin-homology) domainsSimilarity: Contains 24 filamin repeats |
Function
for FLNA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333Function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchorsvarious transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmicsignaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the corticalplate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellulartrafficking (By similarity). Involved in ciliogenesis Genatlas biochemistry entry for FLNA:filamin A,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,highly expressed in the developingcortex and required for locomotion of many cell types
Enzyme Numbers (IUBMB): EC 2.1.1.432 EC 6.3.4.42
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FLNA (NM_001456) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FLNA | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNA |
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table
FLNA for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Flnatm1.2Caw for FLNA
15/16 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Flna) (see all 16):
FLNA for phenotypes About GeneDecksing
|
Pathways & Interactions
for FLNA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cell adhesion_Integrin-mediated cell adhesion and migration | | | 2 | Platelet activation, signaling and aggregation | | | 3 | Platelet degranulation | | | 4 | MAPK signaling pathway | | | 5 | Focal Adhesion | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for FLNA
3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FLNA
1 
Cell Signaling Technology (CST) Pathway for FLNA
5/6  GeneGo (Thomson Reuters) Pathways for FLNA (see all 6)
5/7  BioSystems Pathways for FLNA (see all 7)
5/8 
Reactome Pathways for FLNA (see all 8)
2 
Kegg Pathways (Kegg details for FLNA):
FLNA for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FLNA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/185 Interacting proteins for FLNA (P213331, 2, 3 ENSP000003588664) via UniProtKB, MINT, STRING, and/or I2D (see all 185)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| CCNB2 | O950672, 3, ENSP000002882074 | MINT-4653303 MINT-4653263 MINT-4653380 MINT-4653285 MINT-4653339 MINT-4653322 MINT-4653401 MINT-4653361 I2D:
score=1 STRING: ENSP00000288207 | | ITGB1 | P055561, 2, 3, ENSP000003640944 | EBI-1103234,EBI-4289597 MINT-5226973 MINT-51379 MINT-5227032 MINT-51375 I2D:
score=3 STRING: ENSP00000364094 | | ITGB7 | P260102, 3, ENSP000002670824 | MINT-51374 MINT-5226955 MINT-5226910 MINT-5226942 MINT-5226916 MINT-5226895 MINT-5226997 I2D:
score=4 STRING: ENSP00000267082 | | ABL1 | P005192, 3, ENSP000003614234 | MINT-8110359 I2D:
score=3 STRING: ENSP00000361423 | | PLCG1 | P191742, 3, ENSP000002440074 | MINT-8112543 I2D:
score=3 STRING: ENSP00000244007 |
About this table
Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001837 | epithelial to mesenchymal transition |
IEA | -- | | GO:0002576 | platelet degranulation |
TAS | -- | | GO:0007195 | adenylate cyclase-inhibiting dopamine receptor signaling pathway |
IMP | 10692483 | | GO:0007596 | blood coagulation |
TAS | -- | | GO:0030036 | actin cytoskeleton organization |
-- | -- |
FLNA for ontologies About GeneDecksing
|
Drugs & Compounds
for FLNA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
FLNA for compounds About GeneDecksing
 Browse Tocris compounds for FLNA
10 Novoseek chemical compound relationships for FLNA gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tyrosine |
32.9 |
9 |
15566962 (2), 12791664 (2), 12734206 (1), 16849481 (1) (see all 5) |
| cytochalasin d |
26.1 |
2 |
12734206 (1), 9430714 (1) |
| alanine |
15.8 |
1 |
15574123 (1) |
| serine |
5.61 |
2 |
9430714 (1), 10692483 (1) |
| oligonucleotide |
0 |
1 |
16797880 (1) |
| phenylalanine |
0 |
1 |
17431908 (1) |
| lipid |
0 |
6 |
11482904 (2), 15566962 (1), 17060905 (1), 12734206 (1) (see all 5) |
| calcium |
0 |
7 |
10658206 (1), 15837785 (1), 19177143 (1) |
| guanine |
0 |
6 |
16320251 (1), 18996916 (1), 19120042 (1) |
| dopamine |
0 |
2 |
11320256 (2) |
Search CenterWatch for drugs/clinical trials and news about FLNA
|
Transcripts
for FLNA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FLNA gene (2 alternative transcripts): NM_001110556.1 NM_001456.3 Unigene Cluster for FLNA: Filamin A, alpha Hs.195464 [show with all ESTs]Unigene Representative Sequence: NM_00111055618 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000420627(uc011mzn.1) ENST00000360319 ENST00000498411 ENST00000490936
ENST00000369850 ENST00000344736 ENST00000498491 ENST00000462590 ENST00000444578
ENST00000474358 ENST00000466325 ENST00000415241 ENST00000438732 ENST00000474072
ENST00000466319 ENST00000465144 ENST00000422373(uc004fkk.2 uc010nuu.1)
ENST00000369856
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): FLNA (NM_001456) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FLNA | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNA |
Additional cDNA sequence: AB191259.1 AB191260.1 AB371574.1 AB371575.1 AB371576.1 AB371577.1 AB371578.1 AB371579.1 AB593010.1 AK074048.1 AK090427.2 AK300165.1 AK304255.1 AL050396.1 AL157419.1 BC014654.1 BC028089.1 BC041179.1 BC067111.1 BC109289.1 EF212281.1 GU727643.1 X53416.1 24/66 DOTS entries (see all 66): DT.91982411 DT.95298941 DT.91724551 DT.100671885 DT.450890 DT.91982387 DT.100671880 DT.91982791 DT.121294094 DT.91982601 DT.95369157 DT.121293747 DT.121294182 DT.92033161 DT.98083413 DT.100671893 DT.121293852 DT.121294208 DT.91982328 DT.97786031 DT.91979279 DT.121294497 DT.95369177 DT.91982036 24/158 AceView cDNA sequences (see all 158): BU154671 BP354105 CK430947 BF734671 BP364880 CA397971 CD676237 CN483857 BP363321 BP354093 CD675561 BP363238 BP354440 CN483495 AI902801 BP364608 BP365171 BP355978 BF848804 BG281881 BP366153 BG979500 BF912773 BP365902
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for FLNA (see all 13) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for FLNA
|
Expression
for FLNA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FLNA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCAAGGAC
About this image
See FLNA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FLNA
SOURCE GeneReport for Unigene cluster: Hs.195464
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333Tissue specificity: Ubiquitous
SABiosciences Expression via Pathway-Focused PCR Arrays including FLNA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLNA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FLNA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLNA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLNA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNA |
Orthologs
for FLNA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FLNA gene from 6/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
FLNA1 |
filamin A, alpha |
74.01(n)
76.36(a) |
|
395261 NM_204574.1 NP_989905.1 |
lizard
(Anolis carolinensis) |
Reptilia |
FLNA6 |
-- |
86(a) |
1 ↔ 1 |
2(87711650-87794777) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.37232 |
Transcribed sequence with moderate similarity to protein more |
78.67(n) |
|
AL847431.2 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufb98b062 |
Transcribed sequence with moderate similarity to protein more |
84.91(n) |
|
CA471662.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
cher3 |
actin binding |
53(a)
(best of 2) |
|
-- |
worm
(Caenorhabditis elegans) |
Secernentea |
C23F12.23 |
actin-binding |
41(a)
(best of 3) |
|
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ENSEMBL Gene Tree for FLNA (if available)
TreeFam Gene Tree for FLNA (if available) |
Paralogs
for FLNA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FLNA gene
- FLNB2 FLNC2
13 SIMAP similar genes for FLNA using alignment to 12 protein entries: FLNA_HUMAN (see all proteins):FLJ00119 LOC392787 DKFZp686A1668 FLNB FLNC CLMN
PLEC MACF1 HSpTB1 ACTN1 DMD UTRN
DST
FLNA for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for FLNA
PGOHUM00000239781
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Genomic Variants
for FLNA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FLNA (153576892 - 153603006 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for FLNA
1 CNV: 31575
1 Indel: 41244
4 Inversions: 37365 37364 0673 37363
Human Gene Mutation Database (HGMD): FLNA
Locus Specific Mutation Databases (LSDB): FLNA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLNA |
|
Disorders
/ Diseases
for FLNA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FLNA for disorders About GeneDecksing
OMIM gene information: 300017
OMIM disorders: 300049 311300 304120 300048 309350 305620 300537 300321 314400 300244
UniProtKB/Swiss-Prot: FLNA_HUMAN, P21333
Defects in FLNA are the cause of periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]; also callednodular heterotopia, bilateral periventricular (NHBP or BPNH). PVNH is a developmental disorder characterized by thepresence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normallyfrom the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linkeddominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestationsoutside the central nervous system, especially related to the vascular system. Hemizygous affected males die in theprenatal or perinatal period Defects in FLNA are the cause of periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]; also knownas periventricular heterotopia Ehlers-Danlos variant. PVNH4 is characterized by nodular brain heterotopia, jointhypermobility and development of aortic dilation in early adulthood Defects in FLNA are the cause of otopalatodigital syndrome type 1 (OPD1) [MIM:311300]. OPD1 is an X-linkeddominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mentalretardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletaldysplasias 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 cellshape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton byinteracting 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 similarphenotypic spectrum Defects in FLNA are the cause of otopalatodigital syndrome type 2 (OPD2) [MIM:304120]; also known ascranioorodigital syndrome. OPD2 is a congenital bone disorder that is characterized by abnormally modeled, bowedbones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele andcardiac defects Defects in FLNA are the cause of frontometaphyseal dysplasia (FMD) [MIM:305620]. FMD is a congenital bonedisease 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 bonedisorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaringof the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosisof base of skull 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 qualitativedefects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstructionin the absence of any mechanical lesion Defects in FLNA are the cause of FG syndrome type 2 (FGS2) [MIM:300321]. FG syndrome (FGS) is an X-linkeddisorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation Defects in FLNA are the cause of terminal osseous dysplasia (TOD) [MIM:300244]. A rare X-linked dominantmale-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrentdigital fibroma during infancy. A significant phenotypic variability is observed in affected females Defects in FLNA are the cause of cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]. A rare X-linkedheart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentationof collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valvetissue leading to billowing of the valve leaflets Note=Defects in FLNA may be a cause of macrothrombocytopenia, a disorder characterized by subnormal levels ofblood platelets. Blood platelets are abonormally enlarged
20/69  diseases for FLNA (see all 69): About MalaCardsmelnick-needles syndrome periventricular nodular heterotopia frontometaphyseal dysplasia otopalatodigital syndrome
heterotopia heterotopia, periventricular, ed variant cardiac valvular dysplasia, x-linked periventricular heterotopia, ehlers-danlos variant
cardiac valvular dysplasia ehlers-danlos syndrome periventricular heterotopia hajdu-cheney syndrome
intestinal pseudoobstruction, neuronal amniotic band syndrome terminal osseous dysplasia intestinal pseudo-obstruction
hand, foot and mouth disease otopalatodigital spectrum disorders osseous dysplasia corneal clouding
6 diseases from the University of Copenhagen DISEASES database for FLNA:Periventricular nodular heterotopia Astigmatism Schizotypal personality disorder Borderline personality disorder
Lissencephaly Aicardi syndrome 10/23 Novoseek disease relationships for FLNA gene (see all 23) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| periventricular nodular heterotopia |
97 |
44 |
15249610 (4), 15459826 (2), 16684786 (2), 14988809 (2) (see all 25) |
| frontometaphyseal dysplasia |
92.3 |
6 |
17431908 (1), 12612583 (1), 14988809 (1), 16596676 (1) (see all 5) |
| melnick-needles syndrome |
86 |
3 |
20186808 (1), 12612583 (1), 17159511 (1) |
| infantile spasms |
65.4 |
4 |
16417552 (3) |
| skeletal dysplasia |
63.1 |
5 |
16538226 (1), 19773341 (1), 14988809 (1), 16596676 (1) |
| melanoma |
54.1 |
44 |
19213840 (3), 19177143 (3), 11706047 (2), 18404377 (2) (see all 25) |
| ehlers-danlos syndrome |
53.1 |
2 |
15668422 (1), 15994863 (1) |
| skeletal disorder |
50.9 |
3 |
15684392 (1), 19805437 (1) |
| epilepsy |
49.2 |
5 |
15459826 (1), 10477759 (1), 11914408 (1), 16684786 (1) (see all 5) |
| mild mental retardation |
44.2 |
1 |
11914408 (1) |
GeneTests: FLNA
Periventricular Heterotopia, X-LinkedOtopalatodigital Spectrum Disorders
Human Genome Epidemiology (HuGE) Navigator: FLNA (5 documents)
Export disorders for FLNA gene to outside databases
|
Publications
for FLNA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FLNA gene, integrated from 9 sources (see all 357):
(articles sorted by number of sources associating them with FLNA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PubMed id 12612583)1, 2, 3, 9 Robertson S.P.... Wilkie A.O.M. (2003)
- Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (PubMed id 11532987)1, 2, 9 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, 2, 9 Sheen V.L.... Walsh C.A. (2002)
- Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PubMed id 17190868)1, 2, 9 Kyndt F....Schott J.J. (2007)
- Filamin A mutations cause periventricular heterotopia with Ehlers- Danlos syndrome. (PubMed id 15668422)1, 2, 9 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, 2, 9 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, 2, 9 Maestrini E.... Toniolo D. (1993)
- Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. (PubMed id 16596676)1, 2, 9 Zenker M.... Horn D. (2006)
- Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (PubMed id 15249610)1, 2, 9 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, 3, 9 Gorlin J.B....Kwiatkowski D.J. (1993)
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External Searches for FLNA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FLNA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FLNA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FLNA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FLNA | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for FLNA | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLNA |
|
| | |
About This Section
| Patent Information for FLNA gene:
Search GeneIP for patents involving FLNA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FLNA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for FLNA | | OriGene shRNA RFP for FLNA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLNA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLNA | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FLNA | | OriGene 3'-UTR Clone for FLNA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLNA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for FLNA | | OriGene Custom Protein Services for FLNA | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FLNA | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLNA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLNA | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLNA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLNA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLNA |
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| | Antibodies & Assays for FLNA |
| | | | Search Tocris compounds for FLNA |
| |  |  |  |  | | | | | | Recombinant Protein for FLNA |
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|  |  |  | | | | ThermoFisher Antibodies for FLNA |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNA |
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