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FLASH GENE
Symbol PTPN2 contributors: mct/npt/pgu - updated : 07-12-2015
HGNC name protein tyrosine phosphatase, non-receptor type 2
HGNC id 9650
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
specifically found in T-ALLs with aberrant expression of the TLX1 transcription factor oncogene
tumoral     --low  
sensitizes lymphoid cells to JAK1-mediated transformation and reduces their sensitivity to JAK inhibition
tumoral     --low  
in triple-negative breast cancers
constitutional       loss of function
results in aberrant T-cell differentiation and intestinal dysbiosis similar to those observed in Crohn disease (CD)
Susceptibility
  • to type 1 diabetes
  • to Crohn disease
  • Variant & Polymorphism SNP single-nucleotide polymorphisms (SNPs) rs2542151 (PTPN2) associated with Crohn disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS