Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FLNB contributors: mct - updated : 23-10-2010
HGNC name filamin B, beta
HGNC id 3755
Corresponding disease
ATSG1 atelosteogenesis type I
ATSG3 atelosteogenesis type III
LRS1 Larsen syndrome 1
SCTS spondylocarpotarsal synostosis syndrome
Location 3p14.3      Physical location : 57.994.126 - 58.157.982
Synonym name
  • actin binding protein 278
  • filamin 1 (actin-binding protein-280)-like
  • ABP-280 homolog
  • truncated actin-binding protein
  • thyroid autoantigen
  • filamin 3
  • Synonym symbol(s) TAP, TABP, FNL1L, ABP-278, FH1, AOI, DKFZp686A1668, DKFZp686O033, FLN-B
    DNA
    TYPE functioning gene
    STRUCTURE 163.85 kb     47 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D3S1592 - D3S1067 - D3S1313 - FLNB - D3S1595 - cen
    Authors Bröcker (99), Charakova (00)
    Physical map
    RAP140 3p21.31 retinoblastoma-associated protein 140 ARHGEF3 3p21-p13 Rho guanine nucleotide exchange factor (GEF) 3 SPATA12 3p21.2 spermatogenesis associated 12 IL17RD 3p21.1 interleukin 17 receptor D HESX1 3p21.2-p21.1 homeo box (expressed in ES cells) 1 APPL 3p21.1-p14.3 homeo box (expressed in ES cells) 1 ASB14 3p21.1 ankyrin repeat and SOCS box-containing 14 FLJ40427 3p21.2 hypothetical protein FLJ40427 FLJ44290 3p21.2 FLJ44290 protein DKFZp667B1218 3p21.2 hypothetical protein DKFZp667B1218 ARF4 3p21.2-p21.1 ADP-ribosylation factor 4 FLJ34969 3p21.2 hypothetical protein FLJ34969 SLMAP 3p21.2-p14.3 sarcolemma associated protein LOC344797 3p21.2 similar to peptidylprolyl isomerase A FLNB 3p14.3 filamin B, beta (actin binding protein 278) DNASE1L3 3p21.1-p14.3 deoxyribonuclease I-like 3 ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D FLJ42117 3p21.2 FLJ42117 protein LOC339902 3p21.2 hypothetical LOC339902
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 9560 - 2633 - 2000 11153914
    46 - 9434 - 2591 - 2000 11153914
    45 - 9395 - 2578 - 2000 11153914
    46 - 9467 - 2602 - 2000 11153914
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
     vessel   highly
    Digestiveliver    
    Endocrinepancreas   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    Cardiovascularendothelial
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal actin-binding domain (ABD)
  • C-terminal 24th repeat is essential for filamin dimerization
  • HOMOLOGY
    Homologene
    FAMILY
  • filamin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • dimeric actin cross-linking phosphoprotein
  • playing a role in vertebral segmentation, joint formation and endochondral ossification, and regulate endochondral ossification
  • novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis
  • regulates the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development
  • functions as a scaffold that links between activated RAC1 and a c-Jun NH(2)-terminal kinase (JNK) cascade module for mediating type I IFN signaling
  • regulate intracellular signaling pathways associated with skeletal development
  • plays a pivotal role in vertebral patterning and skeletal morphogenesis and is a novel gene involved in regulating human stature
  • inhibits RUNX2 activity, at least in part, through the SMAD3 pathway
  • crucial role for FLNB in endothelial cell migration and in the angiogenic process in adult endothelial cells
  • key role in endothelial cell motility, exerted through its function as a scaffolding protein connecting KDR, VAV2, and RAC1 proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer FLNA/FLNB
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FLNA to allow for proper neuronal migration
  • interactions with the extracellular matrix and integrin receptors are necessary components for chondrocyte survival and differentiation
  • binds SMAD3, which is known to interact with RUNX2
  • ASB2 targets the actin-binding proteins filamin A and B for proteasomal degradation
  • interactions between FLNB and transmembrane or signalling proteins, mediated at least in part by immunoglobulin domains 19 to 21 are important for both cell spreading and initiation of migration
  • interacting with ICAM1 (filamin B is required for the lateral mobility of ICAM1 and for ICAM1-induced transmigration of leukocytes)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCTS , LRS1 , ATSG1 , ATSG3
    Susceptibility to variation of stature
    Variant & Polymorphism SNP three SNPs were significantly associated with human stature
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS