Fibrillin 2 (FBN2)

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

SPN	W434
HGNC	3604
MGI	95490
PubMed	7493032
RGD	620910
UniProt	P35556
Wiki	Fibrillin

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.

Reference

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 352:330-334(1991) [PubMed] [Europe PMC] [Abstract]

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"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]

"Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly."
Nat. Genet. 11:456-458(1995) [PubMed] [Europe PMC] [Abstract]

"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."
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Am. J. Med. Genet. 92:7-12(2000) [PubMed] [Europe PMC] [Abstract]

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"Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature."
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"Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease."
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"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma."
Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]