FLNB explained

Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the FLNB gene.

FLNB 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.^[1]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.^{[2] [3] [4]}

Interactions

FLNB has been shown to interact with GP1BA,^[5] Filamin,^[6] FBLIM1,^[7] PSEN1,^[8] CD29^[9] and PSEN2.^[8]

See also

• Larsen syndrome

External links

• GeneReview/NIH/UW entry on FLNB-Related Disorders

Further reading

• Stossel TP, Condeelis J, Cooley L . Filamins as integrators of cell mechanics and signalling. . Nat. Rev. Mol. Cell Biol. . 2 . 2 . 138–45 . 2001 . 11252955 . 10.1038/35052082 . 5203942 . etal.
• van der Flier A, Sonnenberg A . Structural and functional aspects of filamins. . Biochim. Biophys. Acta . 1538 . 2–3 . 99–117 . 2001 . 11336782 . 10.1016/S0167-4889(01)00072-6 . free .
• Vujic M, Hallstensson K, Wahlström J . 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 . 1995 . 7485161 . 1801374 . etal.
• Leedman PJ, Faulkner-Jones B, Cram DS . 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 . 1993 . 8327473 . 10.1073/pnas.90.13.5994 . 46853 . etal. 1993PNAS...90.5994L. free .
• Zhang W, Han SW, McKeel DW . Interaction of presenilins with the filamin family of actin-binding proteins . J. Neurosci. . 18 . 3 . 914–22 . 1998 . 9437013 . 10.1523/JNEUROSCI.18-03-00914.1998. 2042137 . etal.
• Takafuta T, Wu G, Murphy GF, Shapiro SS . Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha . J. Biol. Chem. . 273 . 28 . 17531–8 . 1998 . 9651345 . 10.1074/jbc.273.28.17531 . free .
• Xu W, Xie Z, Chung DW, Davie EW . A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha . Blood . 92 . 4 . 1268–76 . 1998 . 9694715 . 10.1182/blood.V92.4.1268.
• Bröcker F, Bardenheuer W, Vieten L . 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 . 1999 . 10449914 . 10.1159/000015309 . 36854151 . etal.
• Ikeda K, Takahashi Y, Katagiri S . 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 . 2000 . 10676904 . 10.1292/jvms.62.121 . free .
• Chakarova C, Wehnert MS, Uhl K . 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 . 2001 . 11153914 . 10.1007/s004390000414 . 39416345 . etal.
• Dyson JM, O'Malley CJ, Becanovic J . The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin . J. Cell Biol. . 155 . 6 . 1065–79 . 2002 . 11739414 . 10.1083/jcb.200104005 . 2150887 . etal.
• van der Flier A, Kuikman I, Kramer D . Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits . J. Cell Biol. . 156 . 2 . 361–76 . 2002 . 11807098 . 10.1083/jcb.200103037 . 2199218 . etal.
• Donaldson JC, Dise RS, Ritchie MD, Hanks SK . 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 . 2002 . 12006559 . 10.1074/jbc.M111697200 . free .
• Shoeman RL, Hartig R, Hauses C, Traub P . Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease . Cell Biol. Int. . 26 . 6 . 529–39 . 2003 . 12119179 . 10.1006/cbir.2002.0895 . 39778155 .
• Sheen VL, Feng Y, Graham D . 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 . 2003 . 12393796 . 10.1093/hmg/11.23.2845 . etal. free .
• Takafuta T, Saeki M, Fujimoto TT . A new member of the LIM protein family binds to filamin B and localizes at stress fibers . J. Biol. Chem. . 278 . 14 . 12175–81 . 2003 . 12496242 . 10.1074/jbc.M209339200 . etal. free .
• Himmel M, Van Der Ven PF, Stöcklein W, Fürst DO . The limits of promiscuity: isoform-specific dimerization of filamins . Biochemistry . 42 . 2 . 430–9 . 2003 . 12525170 . 10.1021/bi026501+.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .

Notes and References

1. Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V . Filamin B mutations cause chondrocyte defects in skeletal development . Hum Mol Genet . 16 . 14 . 1661–1675 . 2007 . 17510210 . 10.1093/hmg/ddm114 . free .
2. Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP . Mutations in FLNB cause boomerang dysplasia . Am J Med Genet . 42 . 7 . e43 . 2005 . 15994868 . 10.1136/jmg.2004.029967 . 1736093.
3. Greally MT . Jewett T . Smith WL Jr. . Penick GD . Williamson RA . Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia . Am J Med Genet . 47 . 4 . 1086–1091 . 1993 . 8291529 . 10.1002/ajmg.1320470731 .
4. Nishimura G, Horiuchi T, Kim OH, Sasamoto Y . 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 Melnick-Needles syndrome . Am J Med Genet . 73 . 2 . 132–138 . 1997 . 9409862 . 10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W .
5. Takafuta . T . Wu G . Murphy G F . Shapiro S S . Jul 1998 . Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha . J. Biol. Chem. . 273 . 28 . 17531–8 . UNITED STATES. 0021-9258. 9651345 . 10.1074/jbc.273.28.17531 . free .
6. Sheen . Volney L . Feng Yuanyi . Graham Donna . Takafuta Toshiro . Shapiro Sandor S . Walsh Christopher A . Nov 2002 . 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 . England. 0964-6906. 12393796 . 10.1093/hmg/11.23.2845 . free .
7. Takafuta . Toshiro . Saeki Mari . Fujimoto Tetsuro-Takahiro . Fujimura Kingo . Shapiro Sandor S . Apr 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 . United States. 0021-9258. 12496242 . 10.1074/jbc.M209339200 . free .
8. Zhang . W . Han S W . McKeel D W . Goate A . Wu J Y . Feb 1998 . Interaction of presenilins with the filamin family of actin-binding proteins . J. Neurosci. . 18 . 3 . 914–22 . UNITED STATES. 0270-6474. 9437013 . 2042137 . 10.1523/JNEUROSCI.18-03-00914.1998.
9. van der Flier . Arjan . Kuikman Ingrid . Kramer Duco . Geerts Dirk . Kreft Maaike . Takafuta Toshiro . Shapiro Sandor S . Sonnenberg Arnoud . Jan 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 . United States. 0021-9525. 11807098 . 10.1083/jcb.200103037 . 2199218 .