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Genetics Home Reference: your guide to understanding genetic conditions
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TNFRSF gene family

Reviewed February 2010

What are the TNFRSF genes?

Genes in the tumor necrosis factor receptor superfamily (TNFRSF) provide instructions for making proteins that are involved in a variety of cellular functions. TNFRSF proteins are receptors that span the cell membrane, so that one end of the protein projects from the outer surface of the cell and the other end remains inside the cell. This structure allows the receptors to relay chemical signals from outside the cell to the interior of the cell.

Receptors in the TNFRSF family attach (bind) to a group of proteins known as tumor necrosis factors (TNFs) on the surface of cells. This binding triggers a series of chemical signals that can instruct cells to grow and divide, self-destruct (undergo apoptosis), or mature and take on specialized functions. TNFRSF receptors are found primarily on immune system cells, where they act as critical regulators of the body's immune responses and inflammatory reactions. These receptors also play important roles in the formation of tissues and organs during embryonic development (organogenesis). The receptors produced from two particular genes in this family, TNFRSF11A and TNFRSF11B, are involved in bone remodeling, the normal process by which old bone is broken down and new bone is created to replace it.

Studies suggest that changes in TNFRSF genes are associated with some autoimmune and chronic inflammatory diseases, such as lupus and rheumatoid arthritis. Mutations in the TNFRSF11A and TNFRSF11B genes are responsible for several rare bone diseases characterized by abnormal bone remodeling.

Which genes are included in the TNFRSF gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the TNFRSF family (http://www.genenames.org/genefamily/tnfrsf.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the TNFRSF gene family: FAS, TNFRSF1A, TNFRSF11A, TNFRSF11B, and TNFRSF13B.

What conditions are related to genes in the TNFRSF gene family?

Genetics Home Reference includes these conditions related to genes in the TNFRSF gene family:

  • autoimmune lymphoproliferative syndrome
  • common variable immune deficiency
  • juvenile Paget disease
  • multiple sclerosis
  • osteopetrosis
  • Paget disease of bone
  • tumor necrosis factor receptor-associated periodic syndrome

Where can I find additional information about the TNFRSF gene family?

You may find the following resources about the TNFRSF gene family helpful.

  • Eurekah Bioscience Collection (2003): Tumor Necrosis Factors (http://www.ncbi.nlm.nih.gov/books/NBK6294/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the TNFRSF gene family?

apoptosis ; arthritis ; autoimmune ; bone remodeling ; cell ; cell membrane ; chronic ; domain ; embryonic ; FAS ; immune system ; lupus ; necrosis ; osteoclast ; protein ; receptor ; transmembrane ; tumor

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 TNFRSF gene family.

  • Hehlgans T, Pfeffer K. The intriguing biology of the tumour necrosis factor/tumour necrosis factor receptor superfamily: players, rules and the games. Immunology. 2005 May;115(1):1-20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15819693?dopt=Abstract)
  • Cheng X, Kinosaki M, Murali R, Greene MI. The TNF receptor superfamily: role in immune inflammation and bone formation. Immunol Res. 2003;27(2-3):287-94. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12857975?dopt=Abstract)
  • Kwon B, Kim BS, Cho HR, Park JE, Kwon BS. Involvement of tumor necrosis factor receptor superfamily(TNFRSF) members in the pathogenesis of inflammatory diseases. Exp Mol Med. 2003 Feb 28;35(1):8-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12642898?dopt=Abstract)
  • Zhou T, Mountz JD, Kimberly RP. Immunobiology of tumor necrosis factor receptor superfamily. Immunol Res. 2002;26(1-3):323-36. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12403370?dopt=Abstract)
  • Locksley RM, Killeen N, Lenardo MJ. The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell. 2001 Feb 23;104(4):487-501. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11239407?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 2010
Published: July 21, 2014