Home > Gene Browser > PTPN11

PTPN11

Synonyms
BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
1
VUS
756
Likely benign
1,145
Benign
919

Patient phenotypes

Proportions of phenotypes among 37 patients carring pathogenic or likely pathogenic variants on PTPN11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
32.4%
Abnormality of head or neck
27%
Abnormality of the eye
27%
Abnormality of the nervous system
21.6%
Abnormality of the integument
16.2%
Abnormality of the musculoskeletal system
16.2%
Growth abnormality
16.2%
Abnormality of prenatal development or birth
8.1%
Abnormality of the cardiovascular system
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of limbs
5.4%
Abnormality of the digestive system
5.4%
Abnormality of the respiratory system
5.4%
Abnormality of the immune system
2.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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