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FLNB (filamin B)

Identity

Alias_namesFLN1L
LRS1
filamin B, beta (actin binding protein 278)
Larsen syndrome 1 (autosomal dominant)
filamin B, beta
Alias_symbol (synonym)TAP
TABP
ABP-278
FH1
Other aliasABP-280
AOI
FLN-B
SCT
HGNC (Hugo) FLNB
LocusID (NCBI) 2317
Atlas_Id 50959
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 58008422 and ends at 58172250 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)
ABHD6 (3p14.3) / FLNB (3p14.3)ANAPC16 (10q22.1) / FLNB (3p14.3)CACNA2D3 (3p21.1) / FLNB (3p14.3)
CCDC66 (3p14.3) / FLNB (3p14.3)FLNB (3p14.3) / ERN1 (17q23.3)FLNB (3p14.3) / FLNB (3p14.3)
FLNB (3p14.3) / MECP2 (Xq28)FLNB (3p14.3) / MUC12 (7q22.1)FLNB (3p14.3) / SLMAP (3p14.3)
FLNB (3p14.3) / VPS8 (3q27.2)RBM33 (7q36.3) / FLNB (3p14.3)ABHD6 3p14.3 / FLNB 3p14.3
CCDC66 3p14.3 / FLNB 3p14.3FLNB 3p14.3 / SLMAP 3p14.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Adenocarcinoma
ABHD6/FLNB (3p14)
CCDC66/FLNB (3p14)
FLNB/SLMAP (3p14)
t(3;3)(p14;q27) FLNB/VPS8
t(3;3)(p21;p14) CACNA2D3/FLNB

External links

Nomenclature
HGNC (Hugo)FLNB   3755
Cards
Entrez_Gene (NCBI)FLNB  2317  filamin B
AliasesABP-278; ABP-280; AOI; FH1; 
FLN-B; FLN1L; LRS1; SCT; TABP; TAP
GeneCards (Weizmann)FLNB
Ensembl hg19 (Hinxton)ENSG00000136068 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136068 [Gene_View]  ENSG00000136068 [Sequence]  chr3:58008422-58172250 [Contig_View]  FLNB [Vega]
ICGC DataPortalENSG00000136068
TCGA cBioPortalFLNB
AceView (NCBI)FLNB
Genatlas (Paris)FLNB
WikiGenes2317
SOURCE (Princeton)FLNB
Genetics Home Reference (NIH)FLNB
Genomic and cartography
GoldenPath hg38 (UCSC)FLNB  -     chr3:58008422-58172250 +  3p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FLNB  -     3p14.3   [Description]    (hg19-Feb_2009)
GoldenPathFLNB - 3p14.3 [CytoView hg19]  FLNB - 3p14.3 [CytoView hg38]
ImmunoBaseENSG00000136068
Mapping of homologs : NCBIFLNB [Mapview hg19]  FLNB [Mapview hg38]
OMIM108720   108721   112310   150250   272460   603381   
Gene and transcription
Genbank (Entrez)AB191258 AB209889 AB371580 AB371581 AB371582
RefSeq transcript (Entrez)NM_001164317 NM_001164318 NM_001164319 NM_001457
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FLNB
Alternative Splicing GalleryENSG00000136068
Gene ExpressionFLNB [ NCBI-GEO ]   FLNB [ EBI - ARRAY_EXPRESS ]   FLNB [ SEEK ]   FLNB [ MEM ]
Gene Expression Viewer (FireBrowse)FLNB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2317
GTEX Portal (Tissue expression)FLNB
Human Protein AtlasENSG00000136068-FLNB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75369   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75369  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75369
Splice isoforms : SwissVarO75369
PhosPhoSitePlusO75369
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    FLNB    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)FLNB
DMDM Disease mutations2317
Blocks (Seattle)FLNB
PDB (RSDB)2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
PDB Europe2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
PDB (PDBSum)2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
PDB (IMB)2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
Structural Biology KnowledgeBase2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
SCOP (Structural Classification of Proteins)2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
CATH (Classification of proteins structures)2DI8    2DI9    2DIA    2DIB    2DIC    2DJ4    2DLG    2DMB    2DMC    2E9I    2E9J    2EE6    2EE9    2EEA    2EEB    2EEC    2EED    2WA5    2WA6    2WA7    3FER    4B7L    5DCP   
SuperfamilyO75369
Human Protein Atlas [tissue]ENSG00000136068-FLNB [tissue]
Peptide AtlasO75369
HPRD04543
IPIIPI00289334   IPI00943563   IPI00382697   IPI00382698   IPI00382699   IPI00953109   IPI00940093   IPI00900293   IPI00477536   
Protein Interaction databases
DIP (DOE-UCLA)O75369
IntAct (EBI)O75369
FunCoupENSG00000136068
BioGRIDFLNB
STRING (EMBL)FLNB
ZODIACFLNB
Ontologies - Pathways
QuickGOO75369
Ontology : AmiGOstress fiber  keratinocyte development  epithelial cell morphogenesis  RNA binding  actin binding  protein binding  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  brush border  focal adhesion  cell cortex  signal transduction  skeletal muscle tissue development  actin cytoskeleton  integral component of membrane  Z disc  actin cytoskeleton organization  identical protein binding  neuron projection  neuronal cell body  cadherin binding  phagocytic vesicle  extracellular exosome  cellular response to interferon-gamma  
Ontology : EGO-EBIstress fiber  keratinocyte development  epithelial cell morphogenesis  RNA binding  actin binding  protein binding  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  brush border  focal adhesion  cell cortex  signal transduction  skeletal muscle tissue development  actin cytoskeleton  integral component of membrane  Z disc  actin cytoskeleton organization  identical protein binding  neuron projection  neuronal cell body  cadherin binding  phagocytic vesicle  extracellular exosome  cellular response to interferon-gamma  
Pathways : KEGGMAPK signaling pathway    Focal adhesion    Salmonella infection    Proteoglycans in cancer   
NDEx NetworkFLNB
Atlas of Cancer Signalling NetworkFLNB
Wikipedia pathwaysFLNB
Orthology - Evolution
OrthoDB2317
GeneTree (enSembl)ENSG00000136068
Phylogenetic Trees/Animal Genes : TreeFamFLNB
HOGENOMO75369
Homologs : HomoloGeneFLNB
Homology/Alignments : Family Browser (UCSC)FLNB
Gene fusions - Rearrangements
Fusion : MitelmanABHD6/FLNB [3p14.3/3p14.3]  [t(3;3)(p14;p14)]  
Fusion : MitelmanCACNA2D3/FLNB [3p21.1/3p14.3]  [t(3;3)(p14;p21)]  
Fusion : MitelmanCCDC66/FLNB [3p14.3/3p14.3]  [t(3;3)(p14;p14)]  
Fusion : MitelmanFLNB/SLMAP [3p14.3/3p14.3]  [t(3;3)(p14;p14)]  
Fusion : MitelmanFLNB/VPS8 [3p14.3/3q27.2]  [t(3;3)(p14;q27)]  
Fusion PortalABHD6 3p14.3 FLNB 3p14.3 KIRC
Fusion PortalCCDC66 3p14.3 FLNB 3p14.3 BRCA
Fusion PortalFLNB 3p14.3 SLMAP 3p14.3 BRCA
Fusion : QuiverFLNB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFLNB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FLNB
dbVarFLNB
ClinVarFLNB
1000_GenomesFLNB 
Exome Variant ServerFLNB
ExAC (Exome Aggregation Consortium)ENSG00000136068
GNOMAD BrowserENSG00000136068
Varsome BrowserFLNB
Genetic variants : HAPMAP2317
Genomic Variants (DGV)FLNB [DGVbeta]
DECIPHERFLNB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFLNB 
Mutations
ICGC Data PortalFLNB 
TCGA Data PortalFLNB 
Broad Tumor PortalFLNB
OASIS PortalFLNB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFLNB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFLNB
Mutations and Diseases : HGMDFLNB
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)Mendelian genes
BioMutasearch FLNB
DgiDB (Drug Gene Interaction Database)FLNB
DoCM (Curated mutations)FLNB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FLNB (select a term)
intoGenFLNB
Cancer3DFLNB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108720    108721    112310    150250    272460    603381   
Orphanet1501    1447    2923    3716    10767   
DisGeNETFLNB
MedgenFLNB
Genetic Testing Registry FLNB
NextProtO75369 [Medical]
TSGene2317
GENETestsFLNB
Target ValidationFLNB
Huge Navigator FLNB [HugePedia]
snp3D : Map Gene to Disease2317
BioCentury BCIQFLNB
ClinGenFLNB (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD2317
Pharm GKB GenePA28173
Clinical trialFLNB
Miscellaneous
canSAR (ICR)FLNB (select the gene name)
HarmonizomeFLNB
DataMed IndexFLNB
Probes
Litterature
PubMed145 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFLNB
EVEXFLNB
GoPubMedFLNB
iHOPFLNB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:16:14 CEST 2020
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