FLNB

FLNB
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
Aliases	FLNB, ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP, filamin B
External IDs	OMIM: 603381; MGI: 2446089; HomoloGene: 37480; GeneCards: FLNB; OMA:FLNB - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p14.3 Start 58,008,398 bp[1] End 58,172,251 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 A1 Start 14,518,185 bp[2] End 14,651,816 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon tibial nerve body of uterus right uterine tube sural nerve prostate muscle layer of sigmoid colon mucosa of ileum left lobe of thyroid gland left uterine tube Top expressed in epithelium of stomach phalanx of foot left colon mucous cell of stomach pyloric antrum secondary oocyte corneal stroma lip submandibular gland uterus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function identical protein binding protein binding actin binding RNA binding cadherin binding Cellular component integral component of membrane cytoskeleton brush border actin cytoskeleton extracellular exosome stress fiber plasma membrane Z discdkac cytoplasm cell cortex focal adhesion extracellular matrix cytosol nucleus neuron projection soma phagocytic vesicle Biological process muscle organ development skeletal muscle tissue development actin cytoskeleton organization epithelial cell morphogenesis multicellular organism development cell differentiation signal transduction keratinocyte development cellular response to interferon-gamma Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2317 286940 Ensembl ENSG00000136068 ENSMUSG00000025278 UniProt O75369 Q80X90 RefSeq (mRNA) NM_001164317 NM_001164318 NM_001164319 NM_001457 NM_001081427 NM_134080 RefSeq (protein) NP_001157789 NP_001157790 NP_001157791 NP_001448 NP_001074896 NP_598841 Location (UCSC) Chr 3: 58.01 – 58.17 Mb Chr 14: 14.52 – 14.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.[6][7][8]

Interactions

FLNB has been shown to interact with GP1BA,[9] Filamin,[10] FBLIM1,[11] PSEN1,[12] CD29[13] and PSEN2.[12]

See also

• Larsen syndrome

References

1. GRCh38: Ensembl release 89: ENSG00000136068 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025278 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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). UNITED STATES: 17531–8. doi:10.1074/jbc.273.28.17531. ISSN 0021-9258. PMID 9651345.
10. 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). England: 2845–54. doi:10.1093/hmg/11.23.2845. ISSN 0964-6906. PMID 12393796.
11. 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). United States: 12175–81. doi:10.1074/jbc.M209339200. ISSN 0021-9258. PMID 12496242.
12. 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). UNITED STATES: 914–22. doi:10.1523/JNEUROSCI.18-03-00914.1998. ISSN 0270-6474. PMC 2042137. PMID 9437013.
13. 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). United States: 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. S2CID 5203942.
• 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. Bibcode:1993PNAS...90.5994L. 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. doi:10.1523/JNEUROSCI.18-03-00914.1998. 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. doi:10.1182/blood.V92.4.1268. 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. S2CID 36854151.
• 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. S2CID 39416345.
• 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. S2CID 39778155.
• 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.