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FLNA (filamin A)

Identity

Alias_namesFLN1
FLN
OPD2
OPD1
filamin A, alpha (actin binding protein 280)
filamin A, alpha
Alias_symbol (synonym)ABP-280
HGNC (Hugo) FLNA
LocusID (NCBI) 2316
Atlas_Id 40608
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153576900 and ends at 153603006 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAM12 (10q26.2) / FLNA (Xq28)ADGRL2 (1p31.1) / FLNA (Xq28)C7orf50 (7p22.3) / FLNA (Xq28)
CMTM7 (3p22.3) / FLNA (Xq28)FLNA (Xq28) / ABCA2 (9q34.3)FLNA (Xq28) / ARID5B (10q21.2)
FLNA (Xq28) / ATP13A1 (19p13.11)FLNA (Xq28) / BOLA2 (16p11.2)FLNA (Xq28) / C2CD3 (11q13.4)
FLNA (Xq28) / CUBN (10p13)FLNA (Xq28) / FLNA (Xq28)FLNA (Xq28) / GTF3C6 (6q21)
FLNA (Xq28) / MGLL (3q21.3)FLNA (Xq28) / RHOU (1q42.13)FLNA (Xq28) / UHMK1 (1q23.3)
FLNA (Xq28) / WTAP (6q25.3)FRMD5 (15q15.3) / FLNA (Xq28)KMT2A (11q23.3) / FLNA (Xq28)
L1CAM (Xq28) / FLNA (Xq28)LHPP (10q26.13) / FLNA (Xq28)MYH9 (22q12.3) / FLNA (Xq28)
PPP1R9B (17q21.33) / FLNA (Xq28)PRG2 (11q12.1) / FLNA (Xq28)RFFL (17q12) / FLNA (Xq28)
RPTOR (17q25.3) / FLNA (Xq28)SBF1 (22q13.33) / FLNA (Xq28)SMARCD2 (17q23.3) / FLNA (Xq28)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FLNA   3754
Cards
Entrez_Gene (NCBI)FLNA  2316  filamin A
AliasesABP-280; ABPX; CSBS; CVD1; 
FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD
GeneCards (Weizmann)FLNA
Ensembl hg19 (Hinxton)ENSG00000196924 [Gene_View]  chrX:153576900-153603006 [Contig_View]  FLNA [Vega]
Ensembl hg38 (Hinxton)ENSG00000196924 [Gene_View]  chrX:153576900-153603006 [Contig_View]  FLNA [Vega]
ICGC DataPortalENSG00000196924
TCGA cBioPortalFLNA
AceView (NCBI)FLNA
Genatlas (Paris)FLNA
WikiGenes2316
SOURCE (Princeton)FLNA
Genetics Home Reference (NIH)FLNA
Genomic and cartography
GoldenPath hg19 (UCSC)FLNA  -     chrX:153576900-153603006 -  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FLNA  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblFLNA - Xq28 [CytoView hg19]  FLNA - Xq28 [CytoView hg38]
Mapping of homologs : NCBIFLNA [Mapview hg19]  FLNA [Mapview hg38]
OMIM300017   300048   300049   300244   300321   300537   304120   305620   309350   311300   314400   
Gene and transcription
Genbank (Entrez)AB191259 AB191260 AB371574 AB371575 AB371576
RefSeq transcript (Entrez)NM_001110556 NM_001456
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_011506 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)FLNA
Cluster EST : UnigeneHs.195464 [ NCBI ]
CGAP (NCI)Hs.195464
Alternative Splicing GalleryENSG00000196924
Gene ExpressionFLNA [ NCBI-GEO ]   FLNA [ EBI - ARRAY_EXPRESS ]   FLNA [ SEEK ]   FLNA [ MEM ]
Gene Expression Viewer (FireBrowse)FLNA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2316
GTEX Portal (Tissue expression)FLNA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21333   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21333  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21333
Splice isoforms : SwissVarP21333
PhosPhoSitePlusP21333
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    FILAMIN_REPEAT (PS50194)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    Filamin/ABP280_repeat-like    Filamin/ABP280_rpt    FLN_A    Ig-like_fold    Ig_E-set   
Domain families : Pfam (Sanger)CH (PF00307)    Filamin (PF00630)   
Domain families : Pfam (NCBI)pfam00307    pfam00630   
Domain families : Smart (EMBL)CH (SM00033)  IG_FLMN (SM00557)  
Conserved Domain (NCBI)FLNA
DMDM Disease mutations2316
Blocks (Seattle)FLNA
PDB (SRS)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
PDB (PDBSum)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
PDB (IMB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
PDB (RSDB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
Structural Biology KnowledgeBase2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
SCOP (Structural Classification of Proteins)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
CATH (Classification of proteins structures)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W   
SuperfamilyP21333
Human Protein AtlasENSG00000196924
Peptide AtlasP21333
HPRD02060
IPIIPI00333541   IPI00302592   IPI00553169   IPI00910863   IPI00552416   IPI00657767   IPI00644576   IPI01018650   IPI00552858   IPI00893150   IPI00927825   
Protein Interaction databases
DIP (DOE-UCLA)P21333
IntAct (EBI)P21333
FunCoupENSG00000196924
BioGRIDFLNA
STRING (EMBL)FLNA
ZODIACFLNA
Ontologies - Pathways
QuickGOP21333
Ontology : AmiGOG-protein coupled receptor binding  glycoprotein binding  platelet degranulation  signal transducer activity  protein binding  extracellular region  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  focal adhesion  adenylate cyclase-inhibiting dopamine receptor signaling pathway  transcription factor binding  actin cytoskeleton  actin cytoskeleton  membrane  negative regulation of transcription from RNA polymerase I promoter  Rho GTPase binding  Ral GTPase binding  kinase binding  platelet activation  regulation of cell migration  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  filamentous actin  cell junction assembly  protein localization to cell surface  Fc-gamma receptor I complex binding  negative regulation of protein catabolic process  cilium assembly  mRNA transcription from RNA polymerase II promoter  protein homodimerization activity  positive regulation of transcription factor import into nucleus  neuronal cell body  negative regulation of apoptotic process  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  negative regulation of sequence-specific DNA binding transcription factor activity  wound healing, spreading of cells  poly(A) RNA binding  establishment of protein localization  SMAD binding  Rac GTPase binding  perinuclear region of cytoplasm  protein stabilization  actin filament binding  GTPase binding  cytoplasmic sequestering of protein  actin crosslink formation  extracellular exosome  platelet aggregation  semaphorin-plexin signaling pathway  mitotic spindle assembly  apical dendrite  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of integrin-mediated signaling pathway  
Ontology : EGO-EBIG-protein coupled receptor binding  glycoprotein binding  platelet degranulation  signal transducer activity  protein binding  extracellular region  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  focal adhesion  adenylate cyclase-inhibiting dopamine receptor signaling pathway  transcription factor binding  actin cytoskeleton  actin cytoskeleton  membrane  negative regulation of transcription from RNA polymerase I promoter  Rho GTPase binding  Ral GTPase binding  kinase binding  platelet activation  regulation of cell migration  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  filamentous actin  cell junction assembly  protein localization to cell surface  Fc-gamma receptor I complex binding  negative regulation of protein catabolic process  cilium assembly  mRNA transcription from RNA polymerase II promoter  protein homodimerization activity  positive regulation of transcription factor import into nucleus  neuronal cell body  negative regulation of apoptotic process  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  negative regulation of sequence-specific DNA binding transcription factor activity  wound healing, spreading of cells  poly(A) RNA binding  establishment of protein localization  SMAD binding  Rac GTPase binding  perinuclear region of cytoplasm  protein stabilization  actin filament binding  GTPase binding  cytoplasmic sequestering of protein  actin crosslink formation  extracellular exosome  platelet aggregation  semaphorin-plexin signaling pathway  mitotic spindle assembly  apical dendrite  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of integrin-mediated signaling pathway  
Pathways : KEGGMAPK signaling pathway    Focal adhesion    Salmonella infection    Proteoglycans in cancer   
NDEx NetworkFLNA
Atlas of Cancer Signalling NetworkFLNA
Wikipedia pathwaysFLNA
Orthology - Evolution
OrthoDB2316
GeneTree (enSembl)ENSG00000196924
Phylogenetic Trees/Animal Genes : TreeFamFLNA
HOVERGENP21333
HOGENOMP21333
Homologs : HomoloGeneFLNA
Homology/Alignments : Family Browser (UCSC)FLNA
Gene fusions - Rearrangements
Fusion : MitelmanFLNA/ABCA2 [Xq28/9q34.3]  
Fusion : MitelmanSBF1/FLNA [22q13.33/Xq28]  [t(X;22)(q28;q13)]  
Fusion Cancer (Beijing)MYH9 [22q12.3]  -  FLNA [Xq28]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFLNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FLNA
dbVarFLNA
ClinVarFLNA
1000_GenomesFLNA 
Exome Variant ServerFLNA
ExAC (Exome Aggregation Consortium)FLNA (select the gene name)
Genetic variants : HAPMAP2316
Genomic Variants (DGV)FLNA [DGVbeta]
DECIPHER (Syndromes)X:153576900-153603006  ENSG00000196924
CONAN: Copy Number AnalysisFLNA 
Mutations
ICGC Data PortalFLNA 
TCGA Data PortalFLNA 
Broad Tumor PortalFLNA
OASIS PortalFLNA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFLNA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFLNA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch FLNA
DgiDB (Drug Gene Interaction Database)FLNA
DoCM (Curated mutations)FLNA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FLNA (select a term)
intoGenFLNA
Cancer3DFLNA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300017    300048    300049    300244    300321    300537    304120    305620    309350    311300    314400   
Orphanet516    1975    2297    3439    11811    12060    12059    11546    13909    14384   
MedgenFLNA
Genetic Testing Registry FLNA
NextProtP21333 [Medical]
TSGene2316
GENETestsFLNA
Huge Navigator FLNA [HugePedia]
snp3D : Map Gene to Disease2316
BioCentury BCIQFLNA
ClinGenFLNA (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2316
Chemical/Pharm GKB GenePA28172
Clinical trialFLNA
Miscellaneous
canSAR (ICR)FLNA (select the gene name)
Probes
Litterature
PubMed344 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFLNA
EVEXFLNA
GoPubMedFLNA
iHOPFLNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:37:36 CET 2016

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