SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
SP110 gene
URL of this page: https://medlineplus.gov/genetics/gene/sp110/

SP110 gene

SP110 nuclear body protein

Normal Function

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.  This protein likely helps regulate the activity of genes that are needed for the body's immune response to foreign invaders, such as viruses and bacteria.

Approximately seven slightly different versions (isoforms) of the SP110 nuclear body protein may be produced from this gene. These isoforms are different sizes and likely have distinct but similar functions.

Health Conditions Related to Genetic Changes

Hepatic veno-occlusive disease with immunodeficiency

Variants (also called mutations) in the SP110 gene have been found to cause hepatic veno-occlusive disease with immunodeficiency (VODI). This condition is characterized by recurrent infections and liver failure caused by blocked blood flow in the liver. Certain variants in the SP110 gene cause cells to produce a version of the SP110 nuclear body protein that doesn’t function properly. In some cases, the protein may not function at all. Without enough functional protein, the immune system cannot effectively fight off foreign invaders, which allows recurrent and persistent infections to develop.

It is unclear how the loss of SP110 nuclear body protein disrupts blood flow in the liver. A lack of functional protein may cause liver disease, or the liver problems may be caused by unregulated apoptosis or recurrent infections.

More About This Health Condition

Other Names for This Gene

  • nuclear body protein SP110
  • SP110_HUMAN
  • transcriptional coactivator Sp110

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of SP110 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • NUCLEAR BODY PROTEIN SP110; SP110

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • 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. doi: 10.1128/MCB.20.16.6138-6146.2000. Citation on PubMed or Free article on PubMed Central
  • Fraschilla I, Jeffrey KL. The Speckled Protein (SP) Family: Immunity's Chromatin Readers. Trends Immunol. 2020 Jul;41(7):572-585. doi: 10.1016/j.it.2020.04.007. Epub 2020 May 5. Citation on PubMed
  • Leu JS, Chang SY, Mu CY, Chen ML, Yan BS. Functional domains of SP110 that modulate its transcriptional regulatory function and cellular translocation. J Biomed Sci. 2018 Apr 11;25(1):34. doi: 10.1186/s12929-018-0434-4. Citation on PubMed
  • 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. doi: 10.1038/ng1780. Epub 2006 Apr 30. Citation on PubMed
  • 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. doi: 10.1128/MCB.23.21.7498-7509.2003. Citation on PubMed or Free article on PubMed Central
DNA helix

Genomic Location

The SP110 gene is found on chromosome 2.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated December 2, 2024
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP