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FLNA (filamin A)

Identity

Alias (NCBI)ABP-280
ABPX
CSBS
CVD1
FGS2
FLN
FLN-A
FLN1
FMD
MNS
NHBP
OPD
OPD1
OPD2
XLVD
XMVD
HGNC (Hugo) FLNA
HGNC Alias symbABP-280
HGNC Alias nameactin binding protein 280
 alpha filamin
HGNC Previous nameFLN1
 FLN
 OPD2
 OPD1
HGNC Previous namefilamin A, alpha (actin binding protein 280)
 filamin A, alpha
LocusID (NCBI) 2316
Atlas_Id 40608
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 154348532 and ends at 154374638 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  ins(X;11)(q28;q23q23) KMT2A/FLNA::ins(11;X)(q23;q28q12) KMT2A/FLNA


External links

 

Nomenclature
HGNC (Hugo)FLNA   3754
Cards
Entrez_Gene (NCBI)FLNA    filamin A
AliasesABP-280; ABPX; CSBS; CVD1; 
FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD
GeneCards (Weizmann)FLNA
Ensembl hg19 (Hinxton)ENSG00000196924 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196924 [Gene_View]  ENSG00000196924 [Sequence]  chrX:154348532-154374638 [Contig_View]  FLNA [Vega]
ICGC DataPortalENSG00000196924
TCGA cBioPortalFLNA
AceView (NCBI)FLNA
Genatlas (Paris)FLNA
SOURCE (Princeton)FLNA
Genetics Home Reference (NIH)FLNA
Genomic and cartography
GoldenPath hg38 (UCSC)FLNA  -     chrX:154348532-154374638 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FLNA  -     Xq28   [Description]    (hg19-Feb_2009)
GoldenPathFLNA - Xq28 [CytoView hg19]  FLNA - Xq28 [CytoView hg38]
ImmunoBaseENSG00000196924
Genome Data Viewer NCBIFLNA [Mapview hg19]  
OMIM300017   300048   300049   300244   300321   304120   305620   309350   311300   314400   
Gene and transcription
Genbank (Entrez)AB191259 AB191260 AB371574 AB371575 AB371576
RefSeq transcript (Entrez)NM_001110556 NM_001456
Consensus coding sequences : CCDS (NCBI)FLNA
Gene ExpressionFLNA [ NCBI-GEO ]   FLNA [ EBI - ARRAY_EXPRESS ]   FLNA [ SEEK ]   FLNA [ MEM ]
Gene Expression Viewer (FireBrowse)FLNA [ Firebrowse - Broad ]
GenevisibleExpression of FLNA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2316
GTEX Portal (Tissue expression)FLNA
Human Protein AtlasENSG00000196924-FLNA [pathology]   [cell]   [tissue]
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
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    CH_dom_sf    Filamin/ABP280_repeat-like    Filamin/ABP280_rpt    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
PDB (RSDB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
PDB Europe2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
PDB (PDBSum)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
PDB (IMB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
Structural Biology KnowledgeBase2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
SCOP (Structural Classification of Proteins)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
CATH (Classification of proteins structures)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2MTP    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P    4P3W    5XR1    6D8C    6EW1   
SuperfamilyP21333
AlphaFold pdb e-kbP21333   
Human Protein Atlas [tissue]ENSG00000196924-FLNA [tissue]
HPRD02060
Protein Interaction databases
DIP (DOE-UCLA)P21333
IntAct (EBI)P21333
BioGRIDFLNA
STRING (EMBL)FLNA
ZODIACFLNA
Ontologies - Pathways
QuickGOP21333
Ontology : AmiGOangiogenesis  G protein-coupled receptor binding  epithelial to mesenchymal transition  blood vessel remodeling  platelet degranulation  heart morphogenesis  RNA binding  protein kinase C binding  protein binding  extracellular region  nucleus  nucleolus  cytoplasm  trans-Golgi network  cytosol  cytosol  actin filament  plasma membrane  brush border  cell-cell junction  focal adhesion  adenylate cyclase-inhibiting dopamine receptor signaling pathway  transcription factor binding  negative regulation of neuron projection development  potassium channel regulator activity  actin cytoskeleton  actin cytoskeleton  membrane  negative regulation of transcription by RNA polymerase I  kinase binding  formation of radial glial scaffolds  cerebral cortex development  Z disc  platelet activation  regulation of cell migration  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  positive regulation of actin filament bundle assembly  actin filament bundle  cell junction assembly  protein localization to cell surface  Fc-gamma receptor I complex binding  negative regulation of protein catabolic process  positive regulation of protein import into nucleus  mRNA transcription by RNA polymerase II  protein homodimerization activity  negative regulation of apoptotic process  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  perikaryon  negative regulation of DNA-binding transcription factor activity  axonal growth cone  wound healing, spreading of cells  ion channel binding  early endosome to late endosome transport  establishment of protein localization  cell-cell junction organization  cadherin binding  SMAD binding  perinuclear region of cytoplasm  positive regulation of axon regeneration  synapse organization  protein stabilization  actin filament binding  GTPase binding  cytoplasmic sequestering of protein  defense response to virus  actin crosslink formation  cilium assembly  extracellular exosome  platelet aggregation  semaphorin-plexin signaling pathway  protein localization to plasma membrane  tubulin deacetylation  mitotic spindle assembly  establishment of Sertoli cell barrier  apical dendrite  postsynapse  glutamatergic synapse  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of potassium ion transmembrane transport  protein localization to bicellular tight junction  regulation of membrane repolarization during atrial cardiac muscle cell action potential  regulation of membrane repolarization during cardiac muscle cell action potential  positive regulation of neural precursor cell proliferation  positive regulation of integrin-mediated signaling pathway  positive regulation of neuron migration  
Ontology : EGO-EBIangiogenesis  G protein-coupled receptor binding  epithelial to mesenchymal transition  blood vessel remodeling  platelet degranulation  heart morphogenesis  RNA binding  protein kinase C binding  protein binding  extracellular region  nucleus  nucleolus  cytoplasm  trans-Golgi network  cytosol  cytosol  actin filament  plasma membrane  brush border  cell-cell junction  focal adhesion  adenylate cyclase-inhibiting dopamine receptor signaling pathway  transcription factor binding  negative regulation of neuron projection development  potassium channel regulator activity  actin cytoskeleton  actin cytoskeleton  membrane  negative regulation of transcription by RNA polymerase I  kinase binding  formation of radial glial scaffolds  cerebral cortex development  Z disc  platelet activation  regulation of cell migration  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  positive regulation of actin filament bundle assembly  actin filament bundle  cell junction assembly  protein localization to cell surface  Fc-gamma receptor I complex binding  negative regulation of protein catabolic process  positive regulation of protein import into nucleus  mRNA transcription by RNA polymerase II  protein homodimerization activity  negative regulation of apoptotic process  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  perikaryon  negative regulation of DNA-binding transcription factor activity  axonal growth cone  wound healing, spreading of cells  ion channel binding  early endosome to late endosome transport  establishment of protein localization  cell-cell junction organization  cadherin binding  SMAD binding  perinuclear region of cytoplasm  positive regulation of axon regeneration  synapse organization  protein stabilization  actin filament binding  GTPase binding  cytoplasmic sequestering of protein  defense response to virus  actin crosslink formation  cilium assembly  extracellular exosome  platelet aggregation  semaphorin-plexin signaling pathway  protein localization to plasma membrane  tubulin deacetylation  mitotic spindle assembly  establishment of Sertoli cell barrier  apical dendrite  postsynapse  glutamatergic synapse  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of potassium ion transmembrane transport  protein localization to bicellular tight junction  regulation of membrane repolarization during atrial cardiac muscle cell action potential  regulation of membrane repolarization during cardiac muscle cell action potential  positive regulation of neural precursor cell proliferation  positive regulation of integrin-mediated signaling pathway  positive regulation of neuron migration  
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
Homologs : HomoloGeneFLNA
Homology/Alignments : Family Browser (UCSC)FLNA
Gene fusions - Rearrangements
Fusion : MitelmanFLNA/ABCA2 [Xq28/9q34.3]  
Fusion : MitelmanSBF1/FLNA [22q13.33/Xq28]  
Fusion Cancer (Beijing)MYH9 [22q12.3]  -  FLNA [Xq28]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]
Fusion : QuiverFLNA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFLNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FLNA
dbVarFLNA
ClinVarFLNA
MonarchFLNA
1000_GenomesFLNA 
Exome Variant ServerFLNA
GNOMAD BrowserENSG00000196924
Varsome BrowserFLNA
ACMGFLNA variants
VarityP21333
Genomic Variants (DGV)FLNA [DGVbeta]
DECIPHERFLNA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFLNA 
Mutations
ICGC Data PortalFLNA 
TCGA Data PortalFLNA 
Broad Tumor PortalFLNA
OASIS PortalFLNA [ Somatic mutations - Copy number]
Cancer Gene: CensusFLNA 
Somatic Mutations in Cancer : COSMICFLNA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFLNA
Mutations and Diseases : HGMDFLNA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFLNA
DgiDB (Drug Gene Interaction Database)FLNA
DoCM (Curated mutations)FLNA
CIViC (Clinical Interpretations of Variants in Cancer)FLNA
Cancer3DFLNA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300017    300048    300049    300244    300321    304120    305620    309350    311300    314400   
Orphanet516    1975    2297    3439    11811    12060    12059    11546    13909    14384   
DisGeNETFLNA
MedgenFLNA
Genetic Testing Registry FLNA
NextProtP21333 [Medical]
GENETestsFLNA
Target ValidationFLNA
Huge Navigator FLNA [HugePedia]
ClinGenFLNA (curated)
Clinical trials, drugs, therapy
MyCancerGenomeFLNA
Protein Interactions : CTDFLNA
Pharm GKB GenePA28172
PharosP21333
Clinical trialFLNA
Miscellaneous
canSAR (ICR)FLNA
HarmonizomeFLNA
DataMed IndexFLNA
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFLNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:09:37 CEST 2021

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