The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

  • DNA damage checkpoint
  • Activation of MAPK activity
  • Protein dephosphorylation
  • Lipid metabolic process
  • Triglyceride metabolic process
  • Noonan syndrome 1
  • Juvenile myelomonocytic leukemia
  • Metachondromatosis
  • Leopard syndrome 1
  • Noonan syndrome with multiple lentigines
  • Hypertrophic Cardiomyopathy
  • Noonan Syndrome
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Crystal structure of PTPN11 (Shp-2), 525 total residues. Hof, P., Pluskey, S., Dhe-Paganon, S., Eck, M.J., Shoelson, S.E. – Protein Data Bank.

Gene Location

HM-VUS Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants