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FLASH GENE

Symbol

LMNB2

contributors: mct/npt - updated : 04-05-2017

HGNC name	lamin B2
HGNC id	6638

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LPPA , EPM9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in acquired partial lipodystrophy (Barraquer-Simons syndrome) constitutional germinal mutation       mutations will be identified in children with severe developmental brain disorders (Coffinier 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Lmnb2&
	8722;/&
	8722; mice had a smaller cerebellum with a complete absence of foliation, and the hippocampus was also abnormal (Coffinier 2010)