Fibrillin 2 (FBN2)

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CCA; DA9; FBLN2; Congenital Contractural Arachnodactyly; Fibrillin 5

Fibrillin 2 (FBN2)

Using the partial FBN2 cDNA isolated by Lee et al. (1991) to screen an MG-63 human osteosarcoma cell line cDNA library, Zhang et al. (1994) obtained a full-length FBN2 clone. The deduced 2,889-amino acid protein contains an N-terminal signal peptide, followed by a proline-rich region, 3 tandem N-terminal EGF-like repeats, and 41 calcium-binding EGF-like repeats interspersed with another EGF-like repeat, a glycine-rich region, 7 TGF-binding protein repeats, and 2 Fib motifs.

FBN2 also has 2 potential cell attachment sequences, multiple N-glycosylation sites, and 2 C-terminal polylysine stretches. The structures of FBN2 and FBN1 are highly similar, with the most significant difference being the glycine-rich sequence near the N terminus of FBN2, where FBN1 has a proline-rich sequence.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA368Hu01 Recombinant Fibrillin 2 (FBN2) Positive Control; Immunogen; SDS-PAGE; WB.
RPA368Hu02 Recombinant Fibrillin 2 (FBN2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA368Hu01 Polyclonal Antibody to Fibrillin 2 (FBN2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Fibrillin 2 (FBN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fibrillin 2 (FBN2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fibrillin 2 (FBN2) Recombinant Protein Customized Service Offer
Antibodies LAA368Mu71 Biotin-Linked Polyclonal Antibody to Fibrillin 2 (FBN2) WB; IHC; ICC.
PAA368Mu01 Polyclonal Antibody to Fibrillin 2 (FBN2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Fibrillin 2 (FBN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fibrillin 2 (FBN2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fibrillin 2 (FBN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fibrillin 2 (FBN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fibrillin 2 (FBN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fibrillin 2 (FBN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fibrillin 2 (FBN2) ELISA Kit Customized Service Offer
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  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and comparative analysis of human chromosome 5." Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
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  6. "Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration." Hum. Mol. Genet. 23:5827-5837(2014) [PubMed] [Europe PMC] [Abstract]
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  8. "Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development."Am. J. Med. Genet. 78:350-355(1998) [PubMed] [Europe PMC] [Abstract]
  9. "A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly."Hum. Genet. 103:22-28(1998) [PubMed] [Europe PMC] [Abstract]
  10. "Two novel fibrillin-2 mutations in congenital contractural arachnodactyly."Am. J. Med. Genet. 92:7-12(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype."Hum. Mutat. 19:39-48(2002) [PubMed] [Europe PMC] [Abstract]
  12. "Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature."Hum. Mutat. 30:334-341(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease."Am. J. Med. Genet. A 152A:2618-2622(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]