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Symbol FUS contributors: mct/pgu - updated : 20-04-2017
HGNC name fused in sarcoma
HGNC id 4010
corresponding disease(s) FUS , AMLT1 , ALS6 , ETM4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   translocation    
rearranged in myxoid liposarcoma with translocation t(12;16) and in myeloid leukemia with translocation t(16;21)(q13;p11)
tumoral fusion      
fused with ATF1 in t (12;16)(q13;p11) in angiomatoid fibrous histiocytomas and with DDIT3 in myxoid liposarcoma
tumoral fusion      
fused with ERG in t(16;21)(p11;q22)in Ewing sarcoma
tumoral fusion      
with CREB3L2 in t(7;16) (q33;p11 in fibromyxoid sarcoma, low-grade
constitutional germinal mutation      
in ALS6, amyotrophic lateral sclerosis (R521G missense mutation in FUS/TLS led to aberrant trafficking with subsequent cytoplasmic retention of the mutant protein)
tumoral     --over  
in liposarcoma
Susceptibility to essential tremor
Variant & Polymorphism other
  • nonsense mutation (c.868C>T) associated to essential tremor
  • Candidate gene
    Therapy target
    major components of nuclear polyQ aggregate-interacting proteins in a Huntington disease cell model and was also associated with neuronal intranuclear inclusions of R6/2 mice