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FLASH GENE
Symbol SH2B3 contributors: mct/npt - updated : 05-07-2015
HGNC name SH2B adaptor protein 3
HGNC id 29605
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation     loss of function
in Ph-like ALLs
Susceptibility
  • to type 1 diabetes (T1D)
  • to multiple sclerosis
  • Variant & Polymorphism other
  • 784T>C variant could contribute to the pathogenesis of T1D through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals (Lavrikova 2010)
  • rs3184504 in SH2B3 confer susceptibility for multiple sclerosis (Pubmed 20508602)
  • Candidate gene
    Marker
  • expression of RGS1, TAGAP, TNFSF14, and SH2B3 in peripheral blood mononuclear cells can predict Crohn Disease at least 9 months before the appearance of any clinical and serological signs of the disease
  • Therapy target
    ANIMAL & CELL MODELS