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FLASH GENE

Symbol

PTPN11

contributors: mct/pgu - updated : 31-03-2017

HGNC name	protein tyrosine phosphatase, non-receptor type 11
HGNC id	9644

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NS1 , LEOPS , NGCS , DUP12Q24 , ECDM2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in severe congenital neutropenia (defective dephosphorylation of proteins involved in signaling pathways) tumoral somatic mutation     gain of function gain of function, in juvenile leukemia, myelomonocytic, rhabdomyosarcoma, myelodysplastic syndrome, acute myeloid leukemia (high phosphatase activity observed in mutations at codons 61, 71, 72, and 76 significantly associated with leukemogenesis) and rarely in solid tumors tumoral somatic mutation       in high hyperdiploid childhood acute lymphoblastic leukemia tumoral germinal mutation     gain of function activating mutations in 3.4p100 of neuroblastomas constitutional     --low   specifically disrupted extracellular signal-regulated kinase (ERK) signaling in Müller cells, leading to STAT3 activation in photoreceptors

Susceptibility

to cancer

Variant & Polymorphism other	risk for developing cancer is 3.5-fold increased risk compared with that in the general population

Candidate gene
Marker	positive PTPN11 and UGP2 expression correlated with clinicopathological and biological behaviors, and poor-prognosis of gallbladder cancer
Therapy target
	System Type Disorder Pubmed cancer reproductive breast might serve as a therapeutic target against breast cancer and other cancers characterized by HER2 overexpression mental retardation

ANIMAL & CELL MODELS

	selective deletion of Shp2, in striated muscle results in severe dilated cardiomyopathy in mice, leading to heart failure and premature mortality
	LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development; transgenic Drosophila expressing the two commonest LS mutations in csw under control of UAS/GAL4 system, ubiquitous expression of those LS-causing alleles resulted in a gain-of-function phenotype, which was similar to that of the Noonan transgenic flies
	decreased Igf1 levels in Ptpn11-mutated mice suggesting an involvement of Shp2 in GH signaling
	germline mutation Shp2D61G in animal models enhances hematopoietic stem cell activity and induces myeloproliferative disease