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FLASH GENE

Symbol

SYNE2

contributors: mct - updated : 04-07-2015

HGNC name	spectrin repeat containing, nuclear envelope 2
HGNC id	17084

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EMD5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Emery-Dreyfuss muscular dystrophy (caused, in part, by uncoupling of the nucleoskeleton and cytoskeleton because of perturbed nesprin/emerin/lamin interactions)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice lacking the actin-binding domain of Nesprin-2 (Nesprin-2DeltaABD), have significant thickening of the epidermis, which is a consequence of the increased epithelial nuclear size
	Syne-2-/- and Sun1-/- mice exhibit excessive apoptosis in the retina