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FLASH GENE
Symbol TET2 contributors: mct/ - updated : 31-05-2018
HGNC name tet oncogene family member 2
HGNC id 25941
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23)
tumoral     --low  
lower in myelodysplasia cells regardless of mutational status, raising the possibility of nonmutational TET2 dysregulation in cases lacking mutations
tumoral somatic mutation      
is associated with poor prognosis in AML patients with intermediate-risk cytogenetics, especially when it is combined with other adverse molecular markers
tumoral somatic mutation      
affect global methylation in chronic myelomonocytic leukemia but most of the changes are likely to be outside gene promoters
constitutional somatic mutation      
present in normal elderly individuals with myeloid skewing and are associated with epigenetic alterations
tumoral germinal mutation      
in B cells of patients affected by angioimmunoblastic T-cell lymphoma (AITL)
constitutional     --low  
results in hypermethylation of promoter CpG islands (CGIs) and enhancers in loci largely overlapping with those induced by oxidative stress (OS)
Susceptibility to early-onset Alzheimer’s disease (EOAD) and frontotemporal dementia (FTD), late-onset Alzheimer’s disease (LOAD), and ALS (amyotrophic lateral sclerosis)
Variant & Polymorphism other
  • loss of TET2 function confers risk for EOAD, LOAD, FTD, and ALS, and pecifically, in aggregate, both coding and non-coding qualifying rare variation in TET2 is associated with approximately a 2-fold risk increase across diverse populations of individuals with AD, FTD, and ALS
  • Candidate gene
    Marker
    Therapy target
  • Tet2(+/-) mice also displayed increased stem cell self-renewal and extramedullary hematopoiesis, suggesting that Tet2 haploinsufficiency contributes to hematopoietic transformation
  • ANIMAL & CELL MODELS
  • reducing Tet2 in mouse hippocampus leads to reduced neurogenesis and impaired memory,58 consistent with its role in promoting adult neurogenesis in mice