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Genetics Home Reference: your guide to understanding genetic conditions
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FBN2

Reviewed February 2008

What is the official name of the FBN2 gene?

The official name of this gene is “fibrillin 2.”

FBN2 is the gene's official symbol. The FBN2 gene is also known by other names, listed below.

What is the normal function of the FBN2 gene?

The FBN2 gene provides instructions for making a large protein called fibrillin-2. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, fibrillin-2 binds to other proteins to form threadlike filaments called microfibrils. Microfibrils become part of elastic fibers which enable the skin, ligaments, and blood vessels to stretch. Researchers have suggested that fibrillin-2 plays a role in directing the assembly of elastic fibers during embryonic development. Microfibrils also contribute to more rigid tissues that support the lens of the eye, nerves, and muscles. Additionally, microfibrils hold certain growth factors called transforming growth factor-beta (TGF-beta) proteins, which keeps them inactive. When released from microfibrils, TGF-beta growth factors are activated and affect the growth and repair of tissues throughout the body.

How are changes in the FBN2 gene related to health conditions?

congenital contractural arachnodactyly - caused by mutations in the FBN2 gene

More than 20 mutations in the FBN2 gene have been found to cause congenital contractural arachnodactyly. Most of these mutations change one protein building block (amino acid) in the fibrillin-2 protein, usually replacing the amino acid cysteine with a different amino acid. The substitution of another amino acid for cysteine can alter the structure or function of fibrillin-2. Most other FBN2 mutations disrupt the way the FBN2 gene's instructions are used to make the fibrillin-2 protein. All of these mutations reduce the amount of fibrillin-2 available to form microfibrils. Decreased microfibril formation probably weakens the elastic fibers and causes overactivation of TGF-beta growth factors, which leads to the signs and symptoms of congenital contractural arachnodactyly.

Where is the FBN2 gene located?

Cytogenetic Location: 5q23-q31

Molecular Location on chromosome 5: base pairs 127,593,600 to 127,873,734

The FBN2 gene is located on the long (q) arm of chromosome 5 between positions 23 and 31.

The FBN2 gene is located on the long (q) arm of chromosome 5 between positions 23 and 31.

More precisely, the FBN2 gene is located from base pair 127,593,600 to base pair 127,873,734 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FBN2?

You and your healthcare professional may find the following resources about FBN2 helpful.

  • Educational resources - Information pages
    Eurekah Bioscience: Interaction Epitopes Important for Fibrillin Assembly (http://www.ncbi.nlm.nih.gov/books/NBK5960/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1386/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for FBN2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2201%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((FBN2%5BTIAB%5D)%20OR%20(fibrillin%202%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • ARTHROGRYPOSIS, DISTAL, TYPE 9 (http://omim.org/entry/121050)
    • FIBRILLIN 2 (http://omim.org/entry/612570)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FBN2.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2201)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2201)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3604)

What other names do people use for the FBN2 gene or gene products?

  • CCA
  • DA9
  • FBN2_HUMAN
  • fibrillin 2 (congenital contractural arachnodactyly)

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FBN2?

amino acid ; arachnodactyly ; congenital ; elastic ; embryonic ; extracellular ; extracellular matrix ; gene ; growth factor ; microfibrils ; protein ; substitution

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2201)
  • Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz DM. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002 Jan;19(1):39-48. (http://www.ncbi.nlm.nih.gov/pubmed/11754102?dopt=Abstract)
  • Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 May;41(5):e56. (http://www.ncbi.nlm.nih.gov/pubmed/15121784?dopt=Abstract)
  • Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet A. 2007 Apr 1;143(7):694-8. (http://www.ncbi.nlm.nih.gov/pubmed/17345643?dopt=Abstract)
  • OMIM: ARTHROGRYPOSIS, DISTAL, TYPE 9 (http://omim.org/entry/121050)
  • Ramirez F, Dietz HC. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. J Cell Physiol. 2007 Nov;213(2):326-30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17708531?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: May 20, 2013