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FLASH GENE
Symbol FBXW7 contributors: mct/shn - updated : 13-04-2017
HGNC name F-box and WD repeat domain containing 7
HGNC id 16712
ASSOCIATED DISORDERS
corresponding disease(s) NDDBHG
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability
tumoral     --low  
in thymoma
tumoral somatic mutation      
in leukemic cells from more than 30p100 of patients with pediatric T-ALL and derived cell lines, and patients carrying FBXW7 and/or NOTCH1 mutations have a favorable overall survival
tumoral        
mutated or deleted in Wilms'tumor
constitutional       loss of function
promotes adipocyte differentiation of human adult stem cells
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
tumorthymus 
target for therapeutic approaches in thymoma
neurologyneurodegenerative 
could be a target of myelin-promoting therapies
ANIMAL & CELL MODELS
  • mice lacking the Fbw7 F-box protein die around 10.5 days post coitus because of a combination of deficiencies in hematopoietic and vascular development and heart chamber maturation
  • Fbxw7+/- mice have greater susceptibility to radiation-induced tumorigenesis
  • inactivation of Fbxw7 in hematopoietic cells causes premature depletion of hematopoietic stem cell (MID: 18367647)
  • absence of Fbw7 in the mouse brain caused severely impaired stem cell differentiation and increased progenitor cell death
  • neural stemness is potentially excessively maintained in Fbxw7-deficient mice