Flnb

Summary

Gene Symbol: Flnb
Description: filamin, beta
Alias: AL024016, Fln-b, filamin-B, ABP-280-like protein, actin binding protein 278, actin-binding-like protein, beta-filamin
Species: mouse
Products:     Flnb

Top Publications

  1. Zhou X, Tian F, Sandzén J, Cao R, Flaberg E, Szekely L, et al. Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A. 2007;104:3919-24 pubmed
    Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis ..
  2. Lu J, Lian G, Lenkinski R, De Grand A, Vaid R, Bryce T, et al. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007;16:1661-75 pubmed
    b>Filamin B (FLNB) is a cytoplasmic protein that regulates the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development (..
  3. Zheng L, Baek H, Karsenty G, Justice M. Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner. J Cell Biol. 2007;178:121-8 pubmed
    b>FILAMIN B, which encodes a cytoplasmic actin binding protein, is mutated in several skeletal dysplasias. To further investigate how an actin binding protein influences skeletogenesis, we generated mice lacking intact Filamin B...
  4. Farrington Rock C, Kirilova V, Dillard Telm L, Borowsky A, Chalk S, Rock M, et al. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008;17:631-41 pubmed
    ..SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifunctional cytoplasmic protein that plays a critical role in skeletal development...
  5. Dauphinee S, Eva M, Yuki K, Herman M, Vidal S, Malo D. Characterization of two ENU-induced mutations affecting mouse skeletal morphology. G3 (Bethesda). 2013;3:1753-8 pubmed publisher
    ..localized the causative point mutations within the genes coding for natriuretic peptide receptor C (NPR-C) and filamin b (FLNB), respectively...
  6. van der Flier A, Kuikman I, Kramer D, Geerts D, Kreft M, Takafuta T, et al. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits. J Cell Biol. 2002;156:361-76 pubmed
    ..These findings suggest that specific combinations of filamin mRNA splicing events modulate the organization of the actin cytoskeleton and the binding affinity for integrins. ..
  7. Sarkisian M, Bartley C, Chi H, Nakamura F, Hashimoto Torii K, Torii M, et al. MEKK4 signaling regulates filamin expression and neuronal migration. Neuron. 2006;52:789-801 pubmed
    ..Collectively, our results demonstrate a link between MEKK4 and Fln-A that impacts neuronal migration initiation and provides insight into the pathogenesis of human PVH. ..
  8. Zieba J, Forlenza K, Khatra J, Sarukhanov A, Durán I, Rigueur D, et al. TGF? and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions. PLoS Genet. 2016;12:e1005936 pubmed publisher
    ..recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations in Filamin B (FLNB)...
  9. Mizuhashi K, Kanamoto T, Moriishi T, Muranishi Y, Miyazaki T, Terada K, et al. Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements. Hum Mol Genet. 2014;23:2953-67 pubmed publisher
    ..vertebral fusions and impairment of bone growth, showing that the phenotypes of Cfm DKO mice resemble those of Filamin B (Flnb)-deficient mice...

More Information

Publications19

  1. Hu J, Lu J, Lian G, Zhang J, Hecht J, Sheen V. Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signaling. PLoS ONE. 2014;9:e89352 pubmed publisher
    Humans who harbor loss of function mutations in the actin-associated filamin B (FLNB) gene develop spondylocarpotarsal syndrome (SCT), a disorder characterized by dwarfism (delayed bone formation) and premature fusion of the vertebral, ..
  2. Lynch C, Gauthier N, Biais N, Lazar A, Roca Cusachs P, Yu C, et al. Filamin depletion blocks endoplasmic spreading and destabilizes force-bearing adhesions. Mol Biol Cell. 2011;22:1263-73 pubmed publisher
    ..Indeed, shRNA-mediated knockdown of FlnA in FlnB(-/-) mouse embryonic fibroblasts (MEFs) causes a novel endoplasmic spreading deficiency as detected by endoplasmic ..
  3. Folgueras A, Guo X, Pasolli H, Stokes N, Polak L, Zheng D, et al. Architectural niche organization by LHX2 is linked to hair follicle stem cell function. Cell Stem Cell. 2013;13:314-27 pubmed publisher
    ..These findings suggest that niche organization underlies the requirement for LHX2 in hair follicle structure and function. ..
  4. Lian G, Dettenhofer M, Lu J, Downing M, Chenn A, Wong T, et al. Filamin A- and formin 2-dependent endocytosis regulates proliferation via the canonical Wnt pathway. Development. 2016;143:4509-4520 pubmed
    ..These studies provide evidence for integration of actin-associated processes in directing neuroepithelial proliferation. ..
  5. Hu J, Lu J, Goyal A, Wong T, Lian G, Zhang J, et al. Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading. Hum Mol Genet. 2017;26:1294-1304 pubmed publisher
    ..To investigate the roles of different filamin isoforms, we focused on FlnA and FlnB interactions in the cartilage growth plate, since mutations in both molecules cause chondrodysplasias...
  6. Hu J, Lu J, Lian G, Ferland R, Dettenhofer M, Sheen V. Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate. Hum Mol Genet. 2014;23:4663-73 pubmed publisher
    b>Filamin B (FlnB) is an actin-binding protein thought to transduce signals from various membrane receptors and intracellular proteins onto the actin cytoskeleton...
  7. Kanaji T, Ware J, Okamura T, Newman P. GPIb? regulates platelet size by controlling the subcellular localization of filamin. Blood. 2012;119:2906-13 pubmed publisher
    ..Taken together, these data demonstrate that coordinated expression of GPIb? and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets. ..
  8. Lu Y, Adegoke O, Nepveu A, Nakayama K, Bedard N, Cheng D, et al. USP19 deubiquitinating enzyme supports cell proliferation by stabilizing KPC1, a ubiquitin ligase for p27Kip1. Mol Cell Biol. 2009;29:547-58 pubmed publisher
  9. Saba L, Bhave S, Grahame N, Bice P, Lapadat R, Belknap J, et al. Candidate genes and their regulatory elements: alcohol preference and tolerance. Mamm Genome. 2006;17:669-88 pubmed
  10. Sheen V, Feng Y, Graham D, Takafuta T, Shapiro S, Walsh C. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 2002;11:2845-54 pubmed
    ..Here we characterize expression patterns for FlnA and a highly homologous protein Filamin B (FlnB) within the nervous system, in order to better understand their potential roles in cortical development...