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FLASH GENE

Symbol

TFE3

contributors: mct - updated : 13-09-2018

HGNC name	transcription factor binding to IGHM enhancer 3
HGNC id	11752

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed 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