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FLASH GENE
Symbol HAVCR2 contributors: mct - updated : 02-02-2016
HGNC name hepatitis A virus cellular receptor 2
HGNC id 18437
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --other  
dysregulated T cell expression in multiple sclerosis
tumoral     --over  
in human acute myeloid leukaemia cell
constitutional     --other  
expression in renal tissue from the patients with systemic lupus erythematosus (SLE), but rarely expression in cases without SLE
constitutional     --other  
altered expression might play an important role in the pathogenesis of intracerebral hemorrhage
Susceptibility
  • to ankylosing spondylitis (AS)
  • to pancreatic cancer
  • Variant & Polymorphism other
  • HAVCR2 -574T allele revealed a positive association with AS
  • prevalence of +4259TG genotype and +4259G allele were significantly increased in the pancreatic cancer cases
  • Candidate gene
  • might be a novel candidate molecule for prognosis evaluation of intracerebral hemorrhage patients
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    could be used as a potential therapeutic target for immune therapy and drug delivery in human acute myeloid leukaemia cells
    respiratoryCF (mucoviscidosis) 
    manipulation of the TIM-3 signaling pathway may be of therapeutic value in CF, preferably in conjunction with antiprotease treatment
    ANIMAL & CELL MODELS