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Genetics Home Reference: your guide to understanding genetic conditions
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Fibronectin type III domain containing gene family

Reviewed April 2013

What are the fibronectin type III domain containing genes?

Genes in the fibronectin type III domain containing family provide instructions for making proteins that contain a region made up of a similar sequence of protein building blocks (amino acids). The shared region (called a domain) resembles a region named the type III domain that was originally identified in a protein called fibronectin. The fibronectin type III domain (FN3 domain) is one of the most commonly occurring domains in proteins. The particular sequence of amino acids folds into a similar structure and allows for a similar function in the proteins that contain it. This domain allows proteins to attach (bind) to other proteins and other molecules.

Several different types of proteins contain the FN3 domain. Many are receptor proteins, which bind to other specific proteins, stimulating signals inside the cell that tell the cell how to function. For example, the erythropoietin receptor is involved in stimulating the formation and maturation of red blood cells. Other FN3 domain containing proteins are important for the strength or structure of cells and tissues. One such protein, called titin, attaches to other proteins in muscle cells, which stabilizes the structure that allows muscles to contract and relax. Another protein that contains the domain, the β4 subunit of integrin, helps cells attach to one another.

Because the proteins produced from genes in the fibronectin type III domain containing family have such a wide variety of functions, mutations in these genes have many different effects.

Which genes are included in the fibronectin type III domain containing gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the fibronectin type III domain containing family (http://www.genenames.org/genefamilies/FN3).

Genetics Home Reference summarizes the normal function and health implications of these members of the fibronectin type III domain containing gene family: COL7A1, CRLF1, EPOR, IL2RG, IL7R, ITGB4, KAL1, L1CAM, MID1, MPL, MYBPC1, MYBPC3, ROBO3, TEK, TNXB, TTN, and USH2A.

What conditions are related to genes in the fibronectin type III domain containing gene family?

Genetics Home Reference includes these conditions related to genes in the fibronectin type III domain containing gene family:

  • cold-induced sweating syndrome
  • distal arthrogryposis type 1
  • dystrophic epidermolysis bullosa
  • Ehlers-Danlos syndrome
  • epidermolysis bullosa with pyloric atresia
  • essential thrombocythemia
  • familial dilated cardiomyopathy
  • familial erythrocytosis
  • familial hypertrophic cardiomyopathy
  • hereditary myopathy with early respiratory failure
  • horizontal gaze palsy with progressive scoliosis
  • Kallmann syndrome
  • L1 syndrome
  • limb-girdle muscular dystrophy
  • multiple cutaneous and mucosal venous malformations
  • multiple sclerosis
  • Opitz G/BBB syndrome
  • primary myelofibrosis
  • retinitis pigmentosa
  • Salih myopathy
  • tibial muscular dystrophy
  • Usher syndrome
  • X-linked severe combined immunodeficiency

Where can I find additional information about the fibronectin type III domain containing gene family?

You may find the following resources about the fibronectin type III domain containing gene family helpful.

  • Molecular Biology of the Cell (fourth edition, 2002): The Shape and Structure of Proteins (http://www.ncbi.nlm.nih.gov/books/NBK26830/)

What glossary definitions help with understanding the fibronectin type III domain containing gene family?

acids ; adhesion molecule ; autosomal ; autosomal recessive ; cardiac ; cell ; cell adhesion ; collagen ; cytokine ; domain ; kinase ; molecule ; muscle cells ; myosin ; oncogene ; protein ; proto-oncogene ; receptor ; recessive ; subunit ; syndrome ; tyrosine

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

References

These sources were used to develop the Genetics Home Reference summary for the fibronectin type III domain containing gene family.

  • Bazan JF. Structural design and molecular evolution of a cytokine receptor superfamily. Proc Natl Acad Sci U S A. 1990 Sep;87(18):6934-8. (http://www.ncbi.nlm.nih.gov/pubmed/2169613?dopt=Abstract)
  • Bork P, Doolittle RF. Proposed acquisition of an animal protein domain by bacteria. Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):8990-4. (http://www.ncbi.nlm.nih.gov/pubmed/1409594?dopt=Abstract)
  • Koide A, Bailey CW, Huang X, Koide S. The fibronectin type III domain as a scaffold for novel binding proteins. J Mol Biol. 1998 Dec 11;284(4):1141-51. (http://www.ncbi.nlm.nih.gov/pubmed/9837732?dopt=Abstract)
  • Müller A, MacCallum RM, Sternberg MJ. Structural characterization of the human proteome. Genome Res. 2002 Nov;12(11):1625-41. (http://www.ncbi.nlm.nih.gov/pubmed/12421749?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: April 2013
Published: December 22, 2014