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PTPN11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PTPN11 gene

The PTPN11 gene provides instructions for the SHP-2 protein, which regulates critical cell signaling pathways involved in development and growth.

Normal Function

The PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps regulate the RAS/MAPK signaling pathway, which is involved in cell growth, division (proliferation), maturation (differentiation), movement (migration), and self-destruction (apoptosis). During embryonic development, SHP-2 is critical for the formation of the heart, blood cells, and bones. The PTPN11 gene is classified as an oncogene, meaning that when mutated, it has the potential to cause normal cells to become cancerous.

Health Conditions Related to Genetic Changes

Noonan syndrome

More than 90 mutations in the PTPN11 gene have been identified in individuals with Noonan syndrome. These mutations typically result in an SHP-2 protein that is continuously active, disrupting the regulation of the RAS/MAPK pathway. This leads to features such as heart defects, short stature, and skeletal abnormalities.

Noonan syndrome with multiple lentigines

At least 11 mutations in the PTPN11 gene cause this condition (formerly called LEOPARD syndrome). Unlike Noonan syndrome, these mutations are believed to disrupt the SHP-2 protein's normal function, leading to a decrease in activity. Features include multiple brown skin spots (lentigines), heart defects, and short stature.

Cancers

Somatic (non-inherited) mutations in the PTPN11 gene can increase the risk of juvenile myelomonocytic leukemia. These mutations cause the SHP-2 protein to be continuously active, leading to the overproduction of certain white blood cells. Somatic mutations are also associated with other blood disorders and, rarely, cancers of the lung, colon, brain, thyroid, and skin.

Other disorders

Mutations in the PTPN11 gene can cause metachondromatosis, a condition characterized by benign bone tumors (osteochondromas) and cartilage growths (enchondromas) that typically develop during childhood.

Other Names for This Gene

  • BPTP3
  • protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
  • protein-tyrosine phosphatase 2C
  • PTN11_HUMAN
  • PTP-1D
  • PTP2C
  • SH protein-tyrosine phosphatase
  • SH-PTP2
  • SH-PTP3
  • SHP2
  • SHP2 phosphatase

Frequently Asked Questions

While both conditions involve the PTPN11 gene, the nature of the mutations differs significantly. In Noonan syndrome, mutations typically result in a gain-of-function, meaning the SHP-2 protein is continuously active, leading to overstimulation of growth pathways. In contrast, Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome) is caused by loss-of-function mutations that reduce the protein's activity. This distinction is critical for diagnosis and management because the specific mutation type can influence the severity of cardiac issues, the presence of skin pigmentation changes, and the long-term monitoring strategies required for each patient. What is the relationship between PTPN11 mutations and juvenile myelomonocytic leukemia (JMML), and is this cancer hereditary?::Somatic mutations in the PTPN11 gene are a common cause of juvenile myelomonocytic leukemia, a rare blood cancer that primarily affects infants and young children. These mutations are acquired after conception and are not inherited from parents; therefore, they are not hereditary. The mutation causes the SHP-2 protein to remain constantly active, leading to the uncontrolled production of certain white blood cells. Because it is a somatic mutation, siblings of an affected child do not have an increased genetic risk for developing JMML due to this specific genetic change. What cardiac abnormalities are most commonly associated with PTPN11-related disorders, and how are they monitored?::The most frequent heart defect associated with PTPN11 mutations, particularly in Noonan syndrome, is pulmonary valve stenosis, where the valve between the right ventricle and the pulmonary artery is narrowed. Other potential issues include hypertrophic cardiomyopathy, where the heart muscle becomes thickened. Monitoring typically involves regular echocardiograms to assess valve function and heart muscle thickness. In some cases, if the stenosis is severe, surgical intervention or balloon valvuloplasty may be required to ensure proper blood flow and prevent long-term heart strain.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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