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FLASH GENE

Symbol

ASXL2

contributors: mct/npt/pgu - updated : 29-11-2016

HGNC name	additional sex combs like 2 (Drosophila)
HGNC id	23805

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SHAPNS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fusion with EPC1 (EPC1/ASXL2 enhanced cell growth in T-leukemia cells)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Asxl2-/- mice display congenital heart malformations including a thickened compact myocardium in the left ventricle, membranous ventricular septal defects, and dilated cardiomyopathy
	Asxl2-/- mice are insulin resistant, lipodystrophic, and fail to respond to a high-fat diet