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FLASH GENE
Symbol TFE3 contributors: mct - updated : 13-09-2013
HGNC name transcription factor binding to IGHM enhancer 3
HGNC id 11752
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion translocation    
t(X;1) (p11.2;q21.2) and fused with PRCC in papillary renal cell carcinoma
tumoral fusion translocation    
t(X;17) (p11.2;q25) and fused with ASPSCR1 in alveolar soft part sarcoma
tumoral fusion      
with CLTC in t(X;17)(p11.2;q23) in renal adenocarcinoma
tumoral fusion      
ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC
tumoral     --over  
in clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma
constitutional     --over  
during macrophage differentiation
tumoral fusion      
YAP1-TFE3 fusions in epithelioid hemangioendothelioma
tumoral   translocation    
with CAMTA1 in Epithelioid hemangioendotheliomas
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
diabete  
could be a therapeutic target for diabetes
ANIMAL & CELL MODELS
combined inactivation of Tfe3 and Tfeb in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells