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Genetics Home Reference: your guide to understanding genetic conditions
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SP110

Reviewed January 2009

What is the official name of the SP110 gene?

The official name of this gene is “SP110 nuclear body protein.”

SP110 is the gene's official symbol. The SP110 gene is also known by other names, listed below.

What is the normal function of the SP110 gene?

The SP110 gene provides instructions for making a protein called SP110 nuclear body protein, which is a component of cellular structures called nuclear bodies. Nuclear bodies are located within the nuclei of cells, where they help control the activity of certain genes. Nuclear bodies are also involved in the regulation of cell division, the self-destruction of cells that are damaged or no longer needed (apoptosis), and the normal function of the immune system.

SP110 nuclear body protein is active primarily in immune system cells called leukocytes and in the spleen. It likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).

How are changes in the SP110 gene related to health conditions?

hepatic veno-occlusive disease with immunodeficiency - caused by mutations in the SP110 gene

At least five mutations in the SP110 gene have been found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). Each of these mutations leads to the production of a nonfunctional version of SP110 nuclear body protein. A lack of functional protein impairs the immune system's ability to fight off foreign invaders, allowing recurrent and persistent infections to develop. It is unclear how the loss of SP110 nuclear body protein disrupts blood flow in the liver, leading to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

other disorders - associated with the SP110 gene

Several common variations (polymorphisms) in the SP110 gene have been studied as risk factors for lung (pulmonary) tuberculosis. This disease is a contagious bacterial infection. At least one study has found that certain variations in the SP110 gene may influence the risk of infection with the bacteria that cause pulmonary tuberculosis. However, several other studies have not found such an association. SP110 variations are probably not a major genetic risk factor for this disease.

Where is the SP110 gene located?

Cytogenetic Location: 2q37.1

Molecular Location on chromosome 2: base pairs 230,168,917 to 230,225,728

The SP110 gene is located on the long (q) arm of chromosome 2 at position 37.1.

The SP110 gene is located on the long (q) arm of chromosome 2 at position 37.1.

More precisely, the SP110 gene is located from base pair 230,168,917 to base pair 230,225,728 on chromosome 2.

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 SP110?

You and your healthcare professional may find the following resources about SP110 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 SP110 gene or gene products?

  • FLJ22835
  • IFI41
  • IFI75
  • interferon-induced protein 41, 30kD
  • interferon-induced protein 41/75
  • interferon-induced protein 75, 52kD
  • IPR1
  • nuclear body protein SP110
  • phosphoprotein 41
  • phosphoprotein 75
  • SP110_HUMAN
  • speckeled, 110-KD
  • transcriptional coactivator Sp110

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 SP110?

apoptosis ; bacteria ; cell ; cell division ; fibrosis ; gene ; hepatic ; immune response ; immune system ; immunodeficiency ; infection ; leukemia ; liver failure ; mycobacterium ; phosphoprotein ; protein ; pulmonary ; receptor ; risk factors ; tissue ; tuberculosis ; veno-occlusive disease

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

References

  • Babb C, Keet EH, van Helden PD, Hoal EG. SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population. Hum Genet. 2007 May;121(3-4):521-2. Epub 2007 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/17287948?dopt=Abstract)
  • Bloch DB, Nakajima A, Gulick T, Chiche JD, Orth D, de La Monte SM, Bloch KD. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biol. 2000 Aug;20(16):6138-46. (http://www.ncbi.nlm.nih.gov/pubmed/10913195?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3431)
  • Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006 Jun;38(6):620-2. Epub 2006 Apr 30. (http://www.ncbi.nlm.nih.gov/pubmed/16648851?dopt=Abstract)
  • Szeszko JS, Healy B, Stevens H, Balabanova Y, Drobniewski F, Todd JA, Nejentsev S. Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis. Hum Genet. 2007 Apr;121(2):155-60. Epub 2006 Dec 6. (http://www.ncbi.nlm.nih.gov/pubmed/17149599?dopt=Abstract)
  • Thye T, Browne EN, Chinbuah MA, Gyapong J, Osei I, Owusu-Dabo E, Niemann S, Rüsch-Gerdes S, Horstmann RD, Meyer CG. No associations of human pulmonary tuberculosis with Sp110 variants. J Med Genet. 2006 Jul;43(7):e32. (http://www.ncbi.nlm.nih.gov/pubmed/16816019?dopt=Abstract)
  • Tosh K, Campbell SJ, Fielding K, Sillah J, Bah B, Gustafson P, Manneh K, Lisse I, Sirugo G, Bennett S, Aaby P, McAdam KP, Bah-Sow O, Lienhardt C, Kramnik I, Hill AV. Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10364-8. Epub 2006 Jun 27. (http://www.ncbi.nlm.nih.gov/pubmed/16803959?dopt=Abstract)
  • Watashi K, Hijikata M, Tagawa A, Doi T, Marusawa H, Shimotohno K. Modulation of retinoid signaling by a cytoplasmic viral protein via sequestration of Sp110b, a potent transcriptional corepressor of retinoic acid receptor, from the nucleus. Mol Cell Biol. 2003 Nov;23(21):7498-509. (http://www.ncbi.nlm.nih.gov/pubmed/14559998?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: January 2009
Published: December 22, 2014