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 →
PPP2R5D gene
URL of this page: https://medlineplus.gov/genetics/gene/ppp2r5d/

PPP2R5D gene

protein phosphatase 2 regulatory subunit B'delta

Normal Function

The PPP2R5D gene provides instructions for making a protein called B56-delta (B56δ). This protein is one piece (the B subunit) of an enzyme called protein phosphatase 2A (PP2A). (B56δ is one of several possible B subunits.) The PP2A enzyme removes phosphate groups, consisting of clusters of oxygen and phosphorus atoms, from certain proteins. This process, called dephosphorylation, helps control whether the protein is turned on or off. The B subunit determines which proteins are dephosphorylated by PP2A and regulates the activity of the enzyme.

PP2A removes phosphate groups from proteins that are part of signaling pathways involved in cell growth and turning genes on and off. PP2A enzymes containing the B56δ protein are found mainly in the brain, where they are thought to be primarily involved in controlling the activity of signaling pathways that play roles in the normal development and function of nerve cells (neurons).

Health Conditions Related to Genetic Changes

PPP2R5D-related intellectual disability

At least seven PPP2R5D gene mutations have been found to cause moderate to severe intellectual disability. Individuals with PPP2R5D-related intellectual disability typically also have weak muscle tone (hypotonia) and delayed development of speech and walking. These mutations affect one copy of the gene. They change single protein building blocks (amino acids) in the B56δ protein. Although the effects of these changes are unclear, researchers suspect that they alter or impair the activity of the PP2A enzyme. Abnormal or reduced PP2A enzyme activity is thought to disrupt signaling pathways in neurons, impairing their normal development and functioning, which may underlie intellectual disability and other features of PPP2R5D-related intellectual disability.

More About This Health Condition

Other Names for This Gene

  • B56D
  • B56delta
  • MRD35
  • PP2A, B subunit, B' delta isoform
  • PP2A, B subunit, B56 delta isoform
  • PP2A, B subunit, PR61 delta isoform
  • PP2A, B subunit, R5 delta isoform
  • protein phosphatase 2, regulatory subunit B (B56), delta isoform
  • Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of PPP2R5D From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D

Gene and Variant Databases

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

References

  • Janssens V, Goris J. Protein phosphatase 2A: a highly regulated family of serine/threonine phosphatases implicated in cell growth and signalling. Biochem J. 2001 Feb 1;353(Pt 3):417-39. doi: 10.1042/0264-6021:3530417. Citation on PubMed or Free article on PubMed Central
  • Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Citation on PubMed or Free article on PubMed Central
  • Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17. Citation on PubMed or Free article on PubMed Central
  • Yu UY, Yoo BC, Ahn JH. Regulatory B Subunits of Protein Phosphatase 2A Are Involved in Site-specific Regulation of Tau Protein Phosphorylation. Korean J Physiol Pharmacol. 2014 Apr;18(2):155-61. doi: 10.4196/kjpp.2014.18.2.155. Epub 2014 Apr 3. Citation on PubMed or Free article on PubMed Central
DNA helix

Genomic Location

The PPP2R5D gene is found on chromosome 6.

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 August 1, 2017
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