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FLASH GENE
Symbol ITGA2B contributors: mct/ - updated : 20-11-2018
HGNC name integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
HGNC id 6138
ASSOCIATED DISORDERS
corresponding disease(s) GT2
related resource Glanzmann Thrombasthenia Database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
specifically up regulated during megakaryopoiesis
constitutional     --over  
ITGA2B/ITGB3 is significantly higher in atopic myelitis (AM) patients than in controls as well as in females compared with males
constitutional germinal mutation     gain of function
activating mutations in ITGA2B and ITGB3 represent the etiology of a subset of congenital macrothrombocytopenias
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • ITGA2B, ITGA8, GIT1, and SHC1 were identified as independent prognostic factors of overall survival of clear cell renal cell carcinoma
  • ITGA2B/ITGB3 complex activation could be a putative prognostic biomarker for the rate of cognitive decline in Alzheimer patients
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    ITGA2B/ITGB3 complex activation could be a potential new treatment target in Alzheimer patients
    ANIMAL & CELL MODELS