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Genetics Home Reference: your guide to understanding genetic conditions
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SH2D1A

Reviewed August 2010

What is the official name of the SH2D1A gene?

The official name of this gene is “SH2 domain containing 1A.”

SH2D1A is the gene's official symbol. The SH2D1A gene is also known by other names, listed below.

What is the normal function of the SH2D1A gene?

The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). SAP interacts with other proteins called SLAM family receptors to activate signaling pathways that are involved in the control of immune cells (lymphocytes). In particular, it helps regulate lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized lymphocytes called natural killer T cells. SAP also helps control immune reactions by triggering self-destruction (apoptosis) of lymphocytes when they are no longer needed.

Does the SH2D1A gene share characteristics with other genes?

The SH2D1A gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SH2D1A gene related to health conditions?

X-linked lymphoproliferative disease - caused by mutations in the SH2D1A gene

More than 70 SH2D1A gene mutations have been identified in people with X-linked lymphoproliferative disease (XLP). Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. The loss of functional SAP disrupts proper control of the immune system and may result in the life-threatening immune reaction to Epstein-Barr virus infection that occurs in this disorder. In addition, cancers of immune system cells (lymphomas) may develop in affected individuals when defective lymphocytes are not properly destroyed by apoptosis.

Where is the SH2D1A gene located?

Cytogenetic Location: Xq25

Molecular Location on the X chromosome: base pairs 124,346,281 to 124,373,159

The SH2D1A gene is located on the long (q) arm of the X chromosome at position 25.

The SH2D1A gene is located on the long (q) arm of the X chromosome at position 25.

More precisely, the SH2D1A gene is located from base pair 124,346,281 to base pair 124,373,159 on the X chromosome.

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 SH2D1A?

You and your healthcare professional may find the following resources about SH2D1A helpful.

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

What other names do people use for the SH2D1A gene or gene products?

  • DSHP
  • Duncan disease SH2-protein
  • EBVS
  • MTCP1
  • SAP
  • SH2 domain-containing protein 1A
  • SH21A_HUMAN
  • signaling lymphocyte activation molecule-associated protein
  • SLAM-associated protein
  • XLP
  • XLPD

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 SH2D1A?

apoptosis ; domain ; gene ; immune system ; infection ; lymphocyte ; molecule ; protein ; virus

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

References

  • Bassiri H, Janice Yeo WC, Rothman J, Koretzky GA, Nichols KE. X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses. Immunol Res. 2008;42(1-3):145-59. doi: 10.1007/s12026-008-8048-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18815745?dopt=Abstract)
  • Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):510-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17989527?dopt=Abstract)
  • Nagy N, Klein E. Deficiency of the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. Immunol Lett. 2010 May 4;130(1-2):13-8. doi: 10.1016/j.imlet.2010.01.002. Epub 2010 Jan 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20080127?dopt=Abstract)
  • Nagy N, Matskova L, Hellman U, Klein G, Klein E. The apoptosis modulating role of SAP (SLAM associated protein) contributes to the symptomatology of the X linked lymphoproliferative disease. Cell Cycle. 2009 Oct 1;8(19):3086-90. Epub 2009 Oct 27. (http://www.ncbi.nlm.nih.gov/pubmed/19738428?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4068)
  • OMIM: SH2 DOMAIN PROTEIN 1A (http://omim.org/entry/300490)
  • Schuster V, Kreth HW. X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein. Immunol Rev. 2000 Dec;178:21-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11213803?dopt=Abstract)
  • Snow AL, Marsh RA, Krummey SM, Roehrs P, Young LR, Zhang K, van Hoff J, Dhar D, Nichols KE, Filipovich AH, Su HC, Bleesing JJ, Lenardo MJ. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009 Oct;119(10):2976-89. doi: 10.1172/JCI39518. Epub 2009 Sep 14. (http://www.ncbi.nlm.nih.gov/pubmed/19759517?dopt=Abstract)
  • Woon ST, Ameratunga R, Croxson M, Taylor G, Neas K, Edkins E, Browett P, Gane E, Munn S. Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Scand J Immunol. 2008 Aug;68(2):153-8. doi: 10.1111/j.1365-3083.2008.02128.x. Erratum in: Scand J Immunol. 2008 Sep;68(3):362. (http://www.ncbi.nlm.nih.gov/pubmed/18702745?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: August 2010
Published: July 28, 2014