FLNB

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Filamin B, beta (actin binding protein 278)
PDB rendering based on 2di8.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols FLNB ; ABP-278; AOI; DKFZp686A1668; DKFZp686O033; FH1; FLN1L; LRS1; SCT; TABP; TAP; filamin B
External IDs Template:OMIM5 Template:MGI HomoloGene: 37480
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Filamin B, beta (actin binding protein 278), also known as FLNB, is a human cytoplasmic protein.[1] It regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.[2]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.[3][4][5]

References

  1. ↑ "Entrez Gene: FLNB filamin B, beta (actin binding protein 278)".
  2. ↑ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661–1675. PMID 17510210.
  3. ↑ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. PMID 15994868.
  4. ↑ Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086–1091. PMID 8291529.
  5. ↑ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of of Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. PMID 9409862.

Further reading

  • Stossel TP, Condeelis J, Cooley L; et al. (2001). "Filamins as integrators of cell mechanics and signalling". Nat. Rev. Mol. Cell Biol. 2 (2): 138–45. doi:10.1038/35052082. PMID 11252955.
  • van der Flier A, Sonnenberg A (2001). "Structural and functional aspects of filamins". Biochim. Biophys. Acta. 1538 (2–3): 99–117. PMID 11336782.
  • Vujic M, Hallstensson K, Wahlström J; et al. (1995). "Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus". Am. J. Hum. Genet. 57 (5): 1104–13. PMID 7485161.
  • Leedman PJ, Faulkner-Jones B, Cram DS; et al. (1993). "Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins". Proc. Natl. Acad. Sci. U.S.A. 90 (13): 5994–8. PMID 8327473.
  • Zhang W, Han SW, McKeel DW; et al. (1998). "Interaction of presenilins with the filamin family of actin-binding proteins". J. Neurosci. 18 (3): 914–22. PMID 9437013.
  • Takafuta T, Wu G, Murphy GF, Shapiro SS (1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha". J. Biol. Chem. 273 (28): 17531–8. PMID 9651345.
  • Xu W, Xie Z, Chung DW, Davie EW (1998). "A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha". Blood. 92 (4): 1268–76. PMID 9694715.
  • Bröcker F, Bardenheuer W, Vieten L; et al. (1999). "Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region". Cytogenet. Cell Genet. 85 (3–4): 267–8. PMID 10449914.
  • Ikeda K, Takahashi Y, Katagiri S (2000). "Effect of medium change on the development of in vitro matured and fertilized bovine oocytes cultured in medium containing amino acids". J. Vet. Med. Sci. 62 (1): 121–3. PMID 10676904.
  • Chakarova C, Wehnert MS, Uhl K; et al. (2001). "Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family". Hum. Genet. 107 (6): 597–611. PMID 11153914.
  • Dyson JM, O'Malley CJ, Becanovic J; et al. (2002). "The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin". J. Cell Biol. 155 (6): 1065–79. doi:10.1083/jcb.200104005. PMID 11739414.
  • van der Flier A, Kuikman I, Kramer D; et al. (2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". J. Cell Biol. 156 (2): 361–76. doi:10.1083/jcb.200103037. PMID 11807098.
  • Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
  • Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biol. Int. 26 (6): 529–39. PMID 12119179.
  • Sheen VL, Feng Y, Graham D; et al. (2003). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Hum. Mol. Genet. 11 (23): 2845–54. PMID 12393796.
  • Takafuta T, Saeki M, Fujimoto TT; et al. (2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers". J. Biol. Chem. 278 (14): 12175–81. doi:10.1074/jbc.M209339200. PMID 12496242.
  • Himmel M, Van Der Ven PF, Stöcklein W, Fürst DO (2003). "The limits of promiscuity: isoform-specific dimerization of filamins". Biochemistry. 42 (2): 430–9. doi:10.1021/bi026501+. PMID 12525170.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

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