Gene:
PTPN11
protein tyrosine phosphatase, non-receptor type 11

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  None
Alternate Symbols:  BPTP3; PTP2C; SH-PTP2; SHP-2; SHP2
PharmGKB Accession Id: PA33986

Details

Cytogenetic Location: chr12 : q24.13 - q24.13
GP mRNA Boundary: chr12 : 112856536 - 112947717
GP Gene Boundary: chr12 : 112846536 - 112950717
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Angiopoietin receptor Tie2-mediated signaling - (Pathway Interaction Database NCI-Nature Curated)
  2. cell to cell adhesion signaling - (BioCarta via Pathway Interaction Database)
  3. Down-stream signal transduction - (Reactome via Pathway Interaction Database)
  4. EPO signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  5. FGF signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  6. Gab1 signalosome - (Reactome via Pathway Interaction Database)
  7. IFN-gamma pathway - (Pathway Interaction Database NCI-Nature Curated)
  8. igf-1 signaling pathway - (BioCarta via Pathway Interaction Database)
  9. IGF1 pathway - (Pathway Interaction Database NCI-Nature Curated)
  10. il 6 signaling pathway - (BioCarta via Pathway Interaction Database)
  11. IL2 signaling events mediated by PI3K - (Pathway Interaction Database NCI-Nature Curated)
  12. IL2 signaling events mediated by STAT5 - (Pathway Interaction Database NCI-Nature Curated)
  13. IL2-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  14. IL6-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  15. Insulin Pathway - (Pathway Interaction Database NCI-Nature Curated)
  16. insulin signaling pathway - (BioCarta via Pathway Interaction Database)
  17. Integrins in angiogenesis - (Pathway Interaction Database NCI-Nature Curated)
  18. Neurotrophic factor-mediated Trk receptor signaling - (Pathway Interaction Database NCI-Nature Curated)
  19. PDGFR-beta signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  20. PECAM1 interactions - (Reactome via Pathway Interaction Database)
  21. Signaling events activated by Hepatocyte Growth Factor Receptor (c-Met) - (Pathway Interaction Database NCI-Nature Curated)
  22. Signaling events mediated by Stem cell factor receptor (c-Kit) - (Pathway Interaction Database NCI-Nature Curated)
  23. Signaling events mediated by VEGFR1 and VEGFR2 - (Pathway Interaction Database NCI-Nature Curated)
  24. Signaling events regulated by Ret tyrosine kinase - (Pathway Interaction Database NCI-Nature Curated)
  25. TCR signaling in naïve CD4+ T cells - (Pathway Interaction Database NCI-Nature Curated)
  26. the co-stimulatory signal during t-cell activation - (BioCarta via Pathway Interaction Database)
  27. Tie2 Signaling - (Reactome via Pathway Interaction Database)
  28. VEGFR1 specific signals - (Pathway Interaction Database NCI-Nature Curated)

Publications related to PTPN11: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2011. Zhang Jinghui, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Emerging concepts of regulation of angiotensin II receptors: new players and targets for traditional receptors. Arteriosclerosis, thrombosis, and vascular biology. 2007. Mogi Masaki, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature genetics. 2007. Pandit Bhaswati, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nature genetics. 2007. Razzaque M Abdur, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
STAT3 polymorphism predicts interferon-alfa response in patients with metastatic renal cell carcinoma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Ito Noriyuki, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. American journal of human genetics. 2006. Tartaglia Marco, et al. PubMed

LinkOuts

Entrez Gene:
5781
OMIM:
151100
163950
163955
176876
607785
UCSC Genome Browser:
NM_002834
RefSeq RNA:
NM_002834
RefSeq Protein:
NP_002825
RefSeq DNA:
AC_000055
AC_000144
NC_000012
NG_007459
NT_009775
NW_001838063
NW_925395
UniProtKB:
PTN11_HUMAN (Q06124)
Ensembl:
ENSG00000179295
GenAtlas:
PTPN11
GeneCard:
PTPN11
MutDB:
PTPN11
ALFRED:
LO053492X
HuGE:
PTPN11
Comparative Toxicogenomics Database:
5781
ModBase:
Q06124
HumanCyc Gene:
HS01636
HGNC:
9644

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