Overview

Location [1]
12q24.13
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Tyrosine-protein phosphatase non-receptor type 11
Synonyms [1]
JMML, NS1, PTP-1D, CFC, SHP2, SH-PTP2, BPTP3, SH-PTP3, PTP2C, METCDS

Protein tyrosine phosphatase, non-receptor type 11 (PTPN11) is a gene that encodes a protein that is in the protein tyrosine phosphatase (PTP) family and functions in cell growth and differentiation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PTPN11 is altered in 1.06% of all cancers with acute myeloid leukemia, lung adenocarcinoma, conventional glioblastoma multiforme, colon adenocarcinoma, and glioblastoma having the greatest prevalence of alterations [3].

PTPN11 GENIE Cases - Top Diseases

The most common alterations in PTPN11 are PTPN11 Mutation (1.50%), PTPN11 Exon 3 Mutation (0.49%), PTPN11 Exon 13 Mutation (0.38%), PTPN11 G503V (0.07%), and PTPN11 E76K (0.06%) [3].

PTPN11 GENIE Cases - Top Alterations

Significance of PTPN11 in Diseases

Myelodysplastic Syndromes +

Non-Small Cell Lung Carcinoma +

Chronic Myelomonocytic Leukemia +

Glioblastoma +

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Anaplastic Astrocytoma +

Melanoma +

Lymphoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Bladder Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Breast Carcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Neurofibromatosis Type 1 +

Pancreatic Carcinoma +

Refractory Anemia With Excess Blasts +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.