Gene Symbol: Fbn2
Description: fibrillin 2
Alias: BC063774, Fib-2, mKIAA4226, sne, fibrillin-2, syndatyly ems
Species: mouse
Products:     Fbn2

Top Publications

  1. Shi Y, Tu Y, De Maria A, Mecham R, Bassnett S. Development, composition, and structural arrangements of the ciliary zonule of the mouse. Invest Ophthalmol Vis Sci. 2013;54:2504-15 pubmed publisher
    ..The organization of the zonule was visualized using antibodies to Fbn1, Fbn2, and microfibril-associated glycoprotein-1 (Magp1) in conjunction with 5-ethynyl-2'-deoxyuridine (EdU), an S-phase ..
  2. Li X, Pereira L, Zhang H, Sanguineti C, Ramirez F, Bonadio J, et al. Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. Genomics. 1993;18:667-72 pubmed
    ..Previous studies have mapped the human genes for two fibrillins to chromosome bands 15q21 (FBN1) and 5q23-q31 (FBN2) and have demonstrated that FBN1 mutations are associated with Marfan syndrome, while FBN2 is linked to the gene ..
  3. Nistala H, Lee Arteaga S, Smaldone S, Siciliano G, Ramirez F. Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production. J Biol Chem. 2010;285:34126-33 pubmed publisher
    ..Adult Fbn2(-/-) mice display a greater than normal osteolytic response to locally implanted lipopolysaccharide-coated titanium ..
  4. Chaudhry S, Gazzard J, Baldock C, Dixon J, Rock M, Skinner G, et al. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet. 2001;10:835-43 pubmed
    ..Fibrillin-1 and fibrillin-2, encoded by FBN1 on chromosome 15q21.1 and FBN2 on chromosome 5q23-q31, are highly similar proteins...
  5. Browning V, Chaudhry S, Planchart A, Dixon M, Schimenti J. Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Genomics. 2001;73:291-8 pubmed
    ..the polydactyly ems (Pde) mutation display preaxial polydactyly of the hindlimbs, and homozygous syndactyly ems (sne) animals are characterized by a fusion of the middle digits of their hindlimbs and sometimes forelimbs...
  6. Miller G, Neilan M, Chia R, Gheryani N, Holt N, Charbit A, et al. ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. PLoS ONE. 2010;5:e9137 pubmed publisher
    Fibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin...
  7. Johnson K, Cook S, Zheng Q. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome. 1998;9:889-92 pubmed
    ..The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus...
  8. Dixon M, Gazzard J, Chaudhry S, Sampson N, Schulte B, Steel K. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum Mol Genet. 1999;8:1579-84 pubmed
    ..This finding provides the molecular basis of another link in the chain of K+recycling in the cochlea, a process essential for normal cochlear function. ..
  9. Charbonneau N, Jordan C, Keene D, Lee Arteaga S, Dietz H, Rifkin D, et al. Microfibril structure masks fibrillin-2 in postnatal tissues. J Biol Chem. 2010;285:20242-51 pubmed publisher
    ..Furthermore, documentation of a novel cryptic site present in EGF4 in fibrillin-1 underscores the molecular complexity and tissue-specific differences in microfibril structure. ..

More Information


  1. Boregowda R, Paul E, White J, Ritty T. Bone and soft connective tissue alterations result from loss of fibrillin-2 expression. Matrix Biol. 2008;27:661-6 pubmed publisher
    ..Together, these results demonstrate a role for fibrillin-2 in bone and soft connective tissue morphological and biochemical processes. ..
  2. Charbonneau N, Dzamba B, Ono R, Keene D, Corson G, Reinhardt D, et al. Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences. J Biol Chem. 2003;278:2740-9 pubmed
    ..This surprising finding implicates distinct functions for fibrillin-2 in peripheral nerves, because a unique feature in humans and in mice mutant for fibrillin-2 is joint contractures that resolve over time. ..
  3. Zhang H, Hu W, Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol. 1995;129:1165-76 pubmed
    ..Accordingly, we propose that fibrillin-1 provides mostly force-bearing structural support, whereas fibrillin-2 predominantly regulates the early process of elastic fiber assembly. ..
  4. Nistala H, Lee Arteaga S, Smaldone S, Siciliano G, Carta L, Ono R, et al. Fibrillin-1 and -2 differentially modulate endogenous TGF-? and BMP bioavailability during bone formation. J Cell Biol. 2010;190:1107-21 pubmed publisher
    ..Fibrillin-2-null (Fbn2(-/-)) mice display a low bone mass phenotype that is associated with reduced bone formation in vivo and impaired ..
  5. Carta L, Pereira L, Arteaga Solis E, Lee Arteaga S, Lenart B, Starcher B, et al. Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem. 2006;281:8016-23 pubmed
    ..In contrast to Fbn1-/- mice, Fbn2 null mice had a well developed and morphologically normal aortic wall...
  6. Arteaga Solis E, Gayraud B, Lee S, Shum L, Sakai L, Ramirez F. Regulation of limb patterning by extracellular microfibrils. J Cell Biol. 2001;154:275-81 pubmed
    ..contribution of the extracellular microfibril-elastic fiber network to vertebrate organogenesis, we generated fibrillin 2 (Fbn2)-null mice by gene targeting and identified a limb-patterning defect in the form of bilateral syndactyly...
  7. Ramirez F. Fibrillln mutations in Marfan syndrome and related phenotypes. Curr Opin Genet Dev. 1996;6:309-15 pubmed
    ..The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of ..
  8. Smaldone S, Ramirez F. Fibrillin microfibrils in bone physiology. Matrix Biol. 2016;52-54:191-197 pubmed publisher
    ..Collectively, these findings have important implication for our understanding of the pathophysiological mechanisms that drive age- and injury-related processes of bone degeneration. ..
  9. Beene L, Wang L, Hubmacher D, Keene D, Reinhardt D, Annis D, et al. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome. Invest Ophthalmol Vis Sci. 2013;54:8337-44 pubmed publisher
    ..and Fbn2-deficient mice, as well as other species, was performed using monospecific fibrillin 1 and fibrillin 2 antibodies. The zonule of Fbn1-deficient and Fbn2-deficient mice was studied by electron microscopy...
  10. Achilleos A, Huffman N, Marcinkiewicyz E, Seidah N, Chen Q, Dallas S, et al. MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†. Hum Mol Genet. 2015;24:2884-98 pubmed publisher
    ..Based on this spinal phenotype and known functions of MBTPS1, we reason that loss-of-function mutations in Mbtps1 may cause the etiology of caudal regression syndrome. ..
  11. Sengle G, Carlberg V, Tufa S, Charbonneau N, Smaldone S, Carlson E, et al. Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice. PLoS Genet. 2015;11:e1005340 pubmed publisher
    ..Both are autosomal dominant disorders, and both disorders affect musculoskeletal tissues. Here we show that Fbn2 null mice (on a 129/Sv background) are born with reduced muscle mass, abnormal muscle histology, and signs of ..
  12. Duchet Suchaux M, Le Maitre C, Bertin A. Differences in susceptibility of inbred and outbred infant mice to enterotoxigenic Escherichia coli of bovine, porcine and human origin. J Med Microbiol. 1990;31:185-90 pubmed
    ..Challenge ETEC strains colonised intestines of all infant mice, but they reached very high levels soon after inoculation in the diarrhoeic ones only. ..
  13. Shi Y, Tu Y, Mecham R, Bassnett S. Ocular phenotype of Fbn2-null mice. Invest Ophthalmol Vis Sci. 2013;54:7163-73 pubmed publisher
    Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. To test its role in morphogenesis, we examined the ocular phenotype of Fbn2(-/-) mice...
  14. Hubmacher D, Wang L, Mecham R, Reinhardt D, Apte S. Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia. Dis Model Mech. 2015;8:487-99 pubmed publisher
    ..An increase in microfibrils in the bronchial wall was associated with increased FBN2 and microfibril-associated glycoprotein-1 (MAGP1) staining, whereas LTBP1 staining was increased in bronchial ..
  15. Penner A, Rock M, Kielty C, Shipley J. Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly. J Biol Chem. 2002;277:35044-9 pubmed
    ..The results also demonstrate the utility of the yeast two-hybrid system to study protein-protein interactions of the extracellular matrix. ..
  16. Charbonneau N, Carlson E, Tufa S, Sengle G, Manalo E, Carlberg V, et al. In vivo studies of mutant fibrillin-1 microfibrils. J Biol Chem. 2010;285:24943-55 pubmed publisher
    ..Taken together, these results suggest that perturbation of microfibril structure may underlie one of the major features of the Marfan syndrome: fragmentation of aortic elastic lamellae...
  17. Nandadasa S, Nelson C, Apte S. ADAMTS9-Mediated Extracellular Matrix Dynamics Regulates Umbilical Cord Vascular Smooth Muscle Differentiation and Rotation. Cell Rep. 2015;11:1519-28 pubmed publisher
    ..In addition, we observed disrupted Shh signaling and perturbed orientation of the mesenchymal primary cilium. Thus, ECM dynamics is a major influence on umbilical vascular SMC fate, with ADAMTS9 acting as its principal mediator. ..
  18. Mátés L, Nicolae C, Morgelin M, Deak F, Kiss I, Aszodi A. Mice lacking the extracellular matrix adaptor protein matrilin-2 develop without obvious abnormalities. Matrix Biol. 2004;23:195-204 pubmed
  19. Goldstein C, Liaw P, Jimenez S, Buchberg A, Siracusa L. Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. Mamm Genome. 1994;5:696-700 pubmed
    The fibrillin genes, FBN1 and FBN2, encode large extracellular matrix glycoproteins involved in the structure and function of microfibrils...
  20. Srivastava U, Paigen B, Korstanje R. Differences in health status affect susceptibility and mapping of genetic loci for atherosclerosis (fatty streak) in inbred mice. Arterioscler Thromb Vasc Biol. 2012;32:2380-6 pubmed publisher
  21. Arteaga Solis E, Sui Arteaga L, Kim M, Schaffler M, Jepsen K, Pleshko N, et al. Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils. Matrix Biol. 2011;30:188-94 pubmed publisher
    ..Our study therefore advances our understanding of the role that extracellular microfibrils play in bone physiology and implicitly, in the pathogenesis of bone loss in human diseases caused by mutations in fibrillin-1 or -2...
  22. d Amaro R, Scheidegger R, Blumer S, Pazera P, Katsaros C, Graf D, et al. Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis. Front Physiol. 2012;3:377 pubmed publisher
    ..Our results indicate that distinct ECM proteins are important for morphogenesis of the secondary palate, both as downstream effectors and as regulators of Tgf-?/Bmp activity. ..
  23. Lee S, Lee E, Park S, Kim J. Induction of fibrillin-2 and periostin expression in Osterix-knockdown MC3T3-E1 cells. Gene. 2017;596:123-129 pubmed publisher
    ..Finally, this study showed differential gene expression profiles for Osx-mediated osteoblast differentiation, suggesting that fibrillin-2 and periostin will be target candidates of Osx in osteoblast differentiation. ..
  24. Kira Tatsuoka M, Oka K, Tsuruga E, Ozaki M, Sawa Y. Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development. J Periodontal Res. 2015;50:714-20 pubmed publisher
    ..Early expression of fibrillin-2 may regulate dental epithelial cell behavior during root and PDL development. ..
  25. Collin G, Hubmacher D, Charette J, Hicks W, Stone L, Yu M, et al. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Hum Mol Genet. 2015;24:6958-74 pubmed publisher
    ..In summary, the Adamtsl4(tvrm267) model provides a valuable tool to further elucidate the molecular basis of zonule formation, the pathophysiology of EL and ADAMTSL4 function in the maintenance of the RPE. ..
  26. Sengle G, Tufa S, Sakai L, Zulliger M, Keene D. A correlative method for imaging identical regions of samples by micro-CT, light microscopy, and electron microscopy: imaging adipose tissue in a model system. J Histochem Cytochem. 2013;61:263-71 pubmed publisher
  27. Munroe R, Bergstrom R, Zheng Q, Libby B, Smith R, John S, et al. Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet. 2000;24:318-21 pubmed
    ..This technology affords several advantages over traditional mutagenesis, including the ability to conduct shortened breeding schemes and to screen for mutant phenotypes directly in ES cells or their differentiated derivatives. ..
  28. Rainger J, Keighren M, Keene D, Charbonneau N, Rainger J, Fisher M, et al. A trans-acting protein effect causes severe eye malformation in the Mp mouse. PLoS Genet. 2013;9:e1003998 pubmed publisher
    ..is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1...
  29. Chernousov M, Baylor K, Stahl R, Stecker M, Sakai L, Lee Arteaga S, et al. Fibrillin-2 is dispensable for peripheral nerve development, myelination and regeneration. Matrix Biol. 2010;29:357-68 pubmed publisher
    ..Based on the data obtained we can conclude that peripheral neuropathy should be excluded as the cause of the impairment of locomotory function and joint contractures observed in fibrillin-2 deficient animals. ..
  30. Samuel C, Sakai L, Amento E. Relaxin regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin. Arch Biochem Biophys. 2003;411:47-55 pubmed
    ..We have found that relaxin specifically inhibits a microfibril component, fibrillin 2 (FBN2), without affecting fibrillin 1 (FBN1)...
  31. Yanagino T, Yuasa K, Nagahama M, Matsuda Y, Tsuji A. Transcriptional regulation of fibrillin-2 gene by E2F family members in chondrocyte differentiation. J Cell Biochem. 2009;106:580-8 pubmed publisher
    ..These results indicated that coordinated expression of the E2F family is critical for the transcriptional regulation of fibrillin-2 during chondrogenesis. ..