Atlas of Genetics and Cytogenetics in Oncology and Haematology


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X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FLNA (filamin A, alpha)

Identity

Other namesABP-280
ABPX
CSBS
CVD1
FLN
FLN-A
FLN1
FMD
MNS
NHBP
OPD
OPD1
OPD2
XLVD
XMVD
HGNC (Hugo) FLNA
LocusID (NCBI) 2316
Location Xq28
Location_base_pair Starts at 153576900 and ends at 153603006 bp from pter ( according to hg19-Feb_2009)
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, alpha
GeneCards (Weizmann)FLNA
Ensembl (Hinxton)ENSG00000196924 [Gene_View]  chrX:153576900-153603006 [Contig_View]  FLNA [Vega]
ICGC DataPortalENSG00000196924
cBioPortalFLNA
AceView (NCBI)FLNA
Genatlas (Paris)FLNA
WikiGenes2316
SOURCE (Princeton)NM_001110556 NM_001456
Genomic and cartography
GoldenPath (UCSC)FLNA  -  Xq28   chrX:153576900-153603006 -  Xq28   [Description]    (hg19-Feb_2009)
EnsemblFLNA - Xq28 [CytoView]
Mapping of homologs : NCBIFLNA [Mapview]
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)AC_000155 NC_000023 NC_018934 NG_011506 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)FLNA
Cluster EST : UnigeneHs.195464 [ NCBI ]
CGAP (NCI)Hs.195464
Alternative Splicing : Fast-db (Paris)GSHG0032430
Alternative Splicing GalleryENSG00000196924
Gene ExpressionFLNA [ NCBI-GEO ]     FLNA [ SEEK ]   FLNA [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21333 (Uniprot)
NextProtP21333  [Medical]
With graphics : InterProP21333
Splice isoforms : SwissVarP21333 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    FILAMIN_REPEAT (PS50194)   
Domains : Interpro (EBI)Actinin_actin-bd_CS [organisation]   CH-domain [organisation]   Filamin/ABP280_repeat-like [organisation]   Filamin/ABP280_rpt [organisation]   FLN [organisation]   Ig-like_fold [organisation]   Ig_E-set [organisation]  
Related proteins : CluSTrP21333
Domain families : Pfam (Sanger)CH (PF00307)    Filamin (PF00630)   
Domain families : Pfam (NCBI)pfam00307    pfam00630   
Domain families : Smart (EMBL)CH (SM00033)  IG_FLMN (SM00557)  
DMDM Disease mutations2316
Blocks (Seattle)P21333
PDB (SRS)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P   
PDB (PDBSum)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P   
PDB (IMB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P   
PDB (RSDB)2AAV    2BP3    2BRQ    2J3S    2JF1    2K3T    2K7P    2K7Q    2W0P    2WFN    3CNK    3HOC    3HOP    3HOR    3ISW    3RGH    4M9P   
Human Protein AtlasENSG00000196924 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP21333
Interologous Interaction database P21333
IntegromeDBFLNA
STRING (EMBL)FLNA
Ontologies - Pathways
Ontology : AmiGOepithelial to mesenchymal transition  glycoprotein binding  platelet degranulation  signal transducer activity  protein kinase C binding  protein binding  extracellular region  nucleus  cytoplasm  trans-Golgi network  cytosol  actin filament  plasma membrane  adenylate cyclase-inhibiting dopamine receptor signaling pathway  blood coagulation  transcription factor binding  actin cytoskeleton  actin cytoskeleton  membrane  Rho GTPase binding  Ral GTPase binding  platelet activation  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  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  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  negative regulation of sequence-specific DNA binding transcription factor activity  poly(A) RNA binding  early endosome to late endosome transport  establishment of protein localization  SMAD binding  Rac GTPase binding  perinuclear region of cytoplasm  protein stabilization  actin filament binding  cytoplasmic sequestering of protein  actin crosslink formation  extracellular vesicular exosome  spindle assembly involved in mitosis  apical dendrite  
Ontology : EGO-EBIepithelial to mesenchymal transition  glycoprotein binding  platelet degranulation  signal transducer activity  protein kinase C binding  protein binding  extracellular region  nucleus  cytoplasm  trans-Golgi network  cytosol  actin filament  plasma membrane  adenylate cyclase-inhibiting dopamine receptor signaling pathway  blood coagulation  transcription factor binding  actin cytoskeleton  actin cytoskeleton  membrane  Rho GTPase binding  Ral GTPase binding  platelet activation  cortical cytoskeleton  small GTPase binding  Myb complex  actin cytoskeleton reorganization  mu-type opioid receptor binding  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  receptor clustering  positive regulation of I-kappaB kinase/NF-kappaB signaling  dendritic shaft  negative regulation of sequence-specific DNA binding transcription factor activity  poly(A) RNA binding  early endosome to late endosome transport  establishment of protein localization  SMAD binding  Rac GTPase binding  perinuclear region of cytoplasm  protein stabilization  actin filament binding  cytoplasmic sequestering of protein  actin crosslink formation  extracellular vesicular exosome  spindle assembly involved in mitosis  apical dendrite  
Pathways : KEGGMAPK signaling pathway    Focal adhesion    Salmonella infection    Proteoglycans in cancer   
Protein Interaction DatabaseFLNA
Wikipedia pathwaysFLNA
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  FLNA [11q14.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FLNA
snp3D : Map Gene to Disease2316
SNP (GeneSNP Utah)FLNA
SNP : HGBaseFLNA
Genetic variants : HAPMAPFLNA
Exome VariantFLNA
1000_GenomesFLNA 
ICGC programENSG00000196924 
Somatic Mutations in Cancer : COSMICFLNA 
CONAN: Copy Number AnalysisFLNA 
Mutations and Diseases : HGMDFLNA
Mutations and Diseases : intOGenFLNA
Genomic VariantsFLNA  FLNA [DGVbeta]
dbVarFLNA
ClinVarFLNA
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300017    300048    300049    300244    300321    300537    304120    305620    309350    311300    314400   
MedgenFLNA
GENETestsFLNA
Disease Genetic AssociationFLNA
Huge Navigator FLNA [HugePedia]  FLNA [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneFLNA
Homology/Alignments : Family Browser (UCSC)FLNA
Phylogenetic Trees/Animal Genes : TreeFamFLNA
Chemical/Protein Interactions : CTD2316
Chemical/Pharm GKB GenePA28172
Clinical trialFLNA
Cancer Resource (Charite)ENSG00000196924
Other databases
Probes
Litterature
PubMed303 Pubmed reference(s) in Entrez
CoreMineFLNA
iHOPFLNA
OncoSearchFLNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:47:02 CEST 2014

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