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FLNB

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox gene}}

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.{{cite journal |vauthors=Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V |title=Filamin B mutations cause chondrocyte defects in skeletal development |journal=Hum Mol Genet |volume=16 |issue=14 |pages=1661–1675 |year=2007 |pmid=17510210 |doi=10.1093/hmg/ddm114 |doi-access=free }}

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.{{cite journal |vauthors=Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP |title=Mutations in FLNB cause boomerang dysplasia |journal=Am J Med Genet |volume=42 |issue=7 |pages=e43 |year=2005 |pmid=15994868 |doi=10.1136/jmg.2004.029967 |pmc=1736093}}{{cite journal |author1=Greally MT |author2=Jewett T |author3=Smith WL Jr. |author4=Penick GD |author5=Williamson RA |title=Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia |journal=Am J Med Genet |volume=47 |issue=4 |pages=1086–1091 |year=1993 |pmid=8291529 |doi=10.1002/ajmg.1320470731 }}{{cite journal |vauthors=Nishimura G, Horiuchi T, Kim OH, Sasamoto Y |title=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 |journal=Am J Med Genet |volume=73 |issue=2 |pages=132–138 |year=1997 |pmid=9409862 |doi=10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W }}

Interactions

FLNB has been shown to interact with GP1BA,{{cite journal |last=Takafuta |first=T |author2=Wu G |author3=Murphy G F |author4=Shapiro S S |date=Jul 1998 |title=Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha |journal=J. Biol. Chem. |volume=273 |issue=28 |pages=17531–8 |location = UNITED STATES| issn = 0021-9258| pmid = 9651345 |doi=10.1074/jbc.273.28.17531 |doi-access=free }} Filamin,{{cite journal |last=Sheen |first=Volney L |author2=Feng Yuanyi |author3=Graham Donna |author4=Takafuta Toshiro |author5=Shapiro Sandor S |author6=Walsh Christopher A |date=Nov 2002 |title=Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact |journal=Hum. Mol. Genet. |volume=11 |issue=23 |pages=2845–54 |location = England| issn = 0964-6906| pmid = 12393796 |doi=10.1093/hmg/11.23.2845 |doi-access=free }} FBLIM1,{{cite journal |last=Takafuta |first=Toshiro |author2=Saeki Mari |author3=Fujimoto Tetsuro-Takahiro |author4=Fujimura Kingo |author5=Shapiro Sandor S |date=Apr 2003 |title=A new member of the LIM protein family binds to filamin B and localizes at stress fibers |journal=J. Biol. Chem. |volume=278 |issue=14 |pages=12175–81 |location = United States| issn = 0021-9258| pmid = 12496242 |doi = 10.1074/jbc.M209339200 |doi-access=free }} PSEN1,{{cite journal |last=Zhang |first=W |author2=Han S W |author3=McKeel D W |author4=Goate A |author5=Wu J Y |date=Feb 1998 |title=Interaction of presenilins with the filamin family of actin-binding proteins |journal=J. Neurosci. |volume=18 |issue=3 |pages=914–22 |location = UNITED STATES| issn = 0270-6474| pmid = 9437013 |pmc=2042137 |doi=10.1523/JNEUROSCI.18-03-00914.1998}} CD29{{cite journal |last=van der Flier |first=Arjan |author2=Kuikman Ingrid |author3=Kramer Duco |author4=Geerts Dirk |author5=Kreft Maaike |author6=Takafuta Toshiro |author7=Shapiro Sandor S |author8=Sonnenberg Arnoud |date=Jan 2002 |title=Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits |journal=J. Cell Biol. |volume=156 |issue=2 |pages=361–76 |location = United States| issn = 0021-9525| pmid = 11807098 |doi = 10.1083/jcb.200103037 |pmc=2199218 }} and PSEN2.

See also

References

{{reflist}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=flnb-dis GeneReview/NIH/UW entry on FLNB-Related Disorders]

Further reading

{{refbegin | 2}}

  • {{cite journal |vauthors=Stossel TP, Condeelis J, Cooley L |title=Filamins as integrators of cell mechanics and signalling. |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 2 |pages= 138–45 |year= 2001 |pmid= 11252955 |doi= 10.1038/35052082 |s2cid=5203942 |display-authors=etal}}
  • {{cite journal |vauthors=van der Flier A, Sonnenberg A |title=Structural and functional aspects of filamins. |journal=Biochim. Biophys. Acta |volume=1538 |issue= 2–3 |pages= 99–117 |year= 2001 |pmid= 11336782 |doi=10.1016/S0167-4889(01)00072-6 |doi-access=free }}
  • {{cite journal |vauthors=Vujic M, Hallstensson K, Wahlström J |title=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 |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1104–13 |year= 1995 |pmid= 7485161 | pmc=1801374 |display-authors=etal}}
  • {{cite journal |vauthors=Leedman PJ, Faulkner-Jones B, Cram DS |title=Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 13 |pages= 5994–8 |year= 1993 |pmid= 8327473 |doi=10.1073/pnas.90.13.5994 | pmc=46853 |display-authors=etal|bibcode=1993PNAS...90.5994L|doi-access=free }}
  • {{cite journal |vauthors=Zhang W, Han SW, McKeel DW |title=Interaction of presenilins with the filamin family of actin-binding proteins |journal=J. Neurosci. |volume=18 |issue= 3 |pages= 914–22 |year= 1998 |pmid= 9437013 |doi= 10.1523/JNEUROSCI.18-03-00914.1998| pmc=2042137 |display-authors=etal}}
  • {{cite journal |vauthors=Takafuta T, Wu G, Murphy GF, Shapiro SS |title=Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha |journal=J. Biol. Chem. |volume=273 |issue= 28 |pages= 17531–8 |year= 1998 |pmid= 9651345 |doi=10.1074/jbc.273.28.17531 |doi-access=free }}
  • {{cite journal |vauthors=Xu W, Xie Z, Chung DW, Davie EW |title=A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha |journal=Blood |volume=92 |issue= 4 |pages= 1268–76 |year= 1998 |pmid= 9694715 |doi= 10.1182/blood.V92.4.1268}}
  • {{cite journal |vauthors=Bröcker F, Bardenheuer W, Vieten L |title=Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region |journal=Cytogenet. Cell Genet. |volume=85 |issue= 3–4 |pages= 267–8 |year= 1999 |pmid= 10449914 |doi=10.1159/000015309 |s2cid=36854151 |display-authors=etal}}
  • {{cite journal |vauthors=Ikeda K, Takahashi Y, Katagiri S |title=Effect of medium change on the development of in vitro matured and fertilized bovine oocytes cultured in medium containing amino acids |journal=J. Vet. Med. Sci. |volume=62 |issue= 1 |pages= 121–3 |year= 2000 |pmid= 10676904 |doi=10.1292/jvms.62.121 |doi-access=free }}
  • {{cite journal |vauthors=Chakarova C, Wehnert MS, Uhl K |title=Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family |journal=Hum. Genet. |volume=107 |issue= 6 |pages= 597–611 |year= 2001 |pmid= 11153914 |doi=10.1007/s004390000414 |s2cid=39416345 |display-authors=etal}}
  • {{cite journal |vauthors=Dyson JM, O'Malley CJ, Becanovic J |title=The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin |journal=J. Cell Biol. |volume=155 |issue= 6 |pages= 1065–79 |year= 2002 |pmid= 11739414 |doi= 10.1083/jcb.200104005 | pmc=2150887 |display-authors=etal}}
  • {{cite journal |vauthors=van der Flier A, Kuikman I, Kramer D |title=Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits |journal=J. Cell Biol. |volume=156 |issue= 2 |pages= 361–76 |year= 2002 |pmid= 11807098 |doi= 10.1083/jcb.200103037 | pmc=2199218 |display-authors=etal}}
  • {{cite journal |vauthors=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028–35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200 |doi-access= free }}
  • {{cite journal |vauthors=Shoeman RL, Hartig R, Hauses C, Traub P |title=Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease |journal=Cell Biol. Int. |volume=26 |issue= 6 |pages= 529–39 |year= 2003 |pmid= 12119179 |doi=10.1006/cbir.2002.0895 |s2cid=39778155 }}
  • {{cite journal |vauthors=Sheen VL, Feng Y, Graham D |title=Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact |journal=Hum. Mol. Genet. |volume=11 |issue= 23 |pages= 2845–54 |year= 2003 |pmid= 12393796 |doi=10.1093/hmg/11.23.2845 |display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Takafuta T, Saeki M, Fujimoto TT |title=A new member of the LIM protein family binds to filamin B and localizes at stress fibers |journal=J. Biol. Chem. |volume=278 |issue= 14 |pages= 12175–81 |year= 2003 |pmid= 12496242 |doi= 10.1074/jbc.M209339200 |display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Himmel M, Van Der Ven PF, Stöcklein W, Fürst DO |title=The limits of promiscuity: isoform-specific dimerization of filamins |journal=Biochemistry |volume=42 |issue= 2 |pages= 430–9 |year= 2003 |pmid= 12525170 |doi= 10.1021/bi026501+}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}

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{{Cytoskeletal proteins}}