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Reviewed April 2011
What is the official name of the PTPN11 gene?
The official name of this gene is “protein tyrosine phosphatase, non-receptor type 11.”
PTPN11 is the gene's official symbol. The PTPN11 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PTPN11 gene?
The PTPN11 gene carries the instructions for making a protein called SHP-2. This protein helps control (regulate) the activation of the RAS/MAPK signaling pathway, which helps control several important cell functions. Specifically, it regulates the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). During embryonic development, the SHP-2 protein is critical in the development of the heart, blood cells, bones, and several other tissues.
The PTPN11 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.
Does the PTPN11 gene share characteristics with other genes?
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the PTPN11 gene related to health conditions?
Where is the PTPN11 gene located?
Cytogenetic Location: 12q24
Molecular Location on chromosome 12: base pairs 112,856,535 to 112,947,716
The PTPN11 gene is located on the long (q) arm of chromosome 12 at position 24.
More precisely, the PTPN11 gene is located from base pair 112,856,535 to base pair 112,947,716 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PTPN11?
You and your healthcare professional may find the following resources about PTPN11 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 PTPN11 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PTPN11?
acids ; acute ; acute lymphocytic leukemia ; acute myeloid leukemia ; amino acid ; apoptosis ; benign ; cancer ; cartilage ; cell ; chronic ; chronic myelomonocytic leukemia ; class ; colon ; differentiation ; domain ; embryonic ; exostoses ; gene ; homology ; juvenile ; juvenile myelomonocytic leukemia ; leukemia ; melanoma ; mutation ; myelodysplastic syndrome ; myeloid ; oncogene ; phosphatase ; proliferation ; protein ; RAS ; receptor ; short stature ; somatic mutation ; stature ; syndrome ; threonine ; thyroid ; tyrosine ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
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? in the Handbook.