FLNB

Filamin B, beta
PDB rendering based on 2di8.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DI8​, 2DI9​, 2DIA​, 2DIB​, 2DIC​, 2DJ4​, 2DLG​, 2DMB​, 2DMC​, 2E9I​, 2E9J​, 2EE6​, 2EE9​, 2EEA​, 2EEB​, 2EEC​, 2EED​, 2WA5​, 2WA6​, 2WA7​, 3FER​, 4B7L​
Identifiers
Symbols	FLNB ; ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP
External IDs	OMIM: 603381 MGI: 2446089 HomoloGene: 37480 GeneCards: FLNB Gene
Gene ontology Molecular function • actin binding • protein binding • identical protein binding • poly(A) RNA binding Cellular component • stress fiber • cytoplasm • cytosol • plasma membrane • brush border • focal adhesion • cell cortex • actin cytoskeleton • integral component of membrane • Z disc • extracellular exosome Biological process • keratinocyte development • epithelial cell morphogenesis • cytoskeletal anchoring at plasma membrane • signal transduction • skeletal muscle tissue development • cytokine-mediated signaling pathway • actin cytoskeleton organization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2317	286940
Ensembl	ENSG00000136068	ENSMUSG00000025278
UniProt	O75369	Q80X90
RefSeq (mRNA)	NM_001164317	NM_001081427
RefSeq (protein)	NP_001157789	NP_001074896
Location (UCSC)	Chr 3: 58.01 – 58.17 Mb	Chr 14: 7.82 – 7.95 Mb
PubMed search

Filamin B, beta (FLNB), also known as Filamin B, beta (actin binding protein 278), 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

References

1. 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. doi:10.1093/hmg/ddm114. PMID 17510210.
2. 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. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868.
3. 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. doi:10.1002/ajmg.1320470731. PMID 8291529.
4. 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 Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.
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. (UNITED STATES) 273 (28): 17531–8. doi:10.1074/jbc.273.28.17531. ISSN 0021-9258. PMID 9651345.
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. (England) 11 (23): 2845–54. doi:10.1093/hmg/11.23.2845. ISSN 0964-6906. PMID 12393796.
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. (United States) 278 (14): 12175–81. doi:10.1074/jbc.M209339200. ISSN 0021-9258. PMID 12496242.
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. (UNITED STATES) 18 (3): 914–22. ISSN 0270-6474. PMC 2042137. PMID 9437013.
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. (United States) 156 (2): 361–76. doi:10.1083/jcb.200103037. ISSN 0021-9525. PMC 2199218. PMID 11807098.

External links

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

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. doi:10.1016/S0167-4889(01)00072-6. 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. PMC 1801374. 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. doi:10.1073/pnas.90.13.5994. PMC 46853. 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. PMC 2042137. 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. doi:10.1074/jbc.273.28.17531. 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. doi:10.1159/000015309. 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. doi:10.1292/jvms.62.121. 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. doi:10.1007/s004390000414. 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. PMC 2150887. 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. PMC 2199218. 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. doi:10.1006/cbir.2002.0895. 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. doi:10.1093/hmg/11.23.2845. 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.