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FLASH GENE

Symbol

MFN2

contributors: mct/ - updated : 08-04-2016

HGNC name	mitofusin 2
HGNC id	16877

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2A2 , HMSN6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       (transversion or transition) in some patients with Charcot-Marie-Tooth disease type 2A constitutional     --other   dysregulation of MFN2 expression in obesity or type 2 diabetes (collaboration with TNFalpha and interleukin-6 ) constitutional     --over   by body weight loss in skeletal muscle of obese humans constitutional     --low   by type 2 diabetes in skeletal muscle constitutional     --over   drastically changes mitochondrial morphology, forming mitochondrial clusters and causes mitochondrial dysfunction and cell death constitutional     --low   found in Huntington disease patients relative to the controls constitutional     --low   loss of MFN2 might therefore be expected to increase the number of STIM1 multimers that successfully migrate to ER-PM junctions, resulting in increased Ca2+ entry constitutional     --low   in trophoblastic cells could be an important cause of early miscarriage

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology acquired   may serve as an accessible therapeutic target for the treatment of neuronal trauma and stroke immunology immunodeficiency   might be a novel therapeutic target in T cell apoptosis related disorders

ANIMAL & CELL MODELS

	Mfn-2-deficient mice display modest cardiac hypertrophy accompanied by slight functional deterioration
	hearts from cardiac-specific MFN2 knock-out mice had abnormal mitochondrial and cellular metabolism and were vulnerable to ischemia-reperfusion challenge
	Mfn2 mutants exhibit severe locomotive defects, which are preceded by the loss of dopaminergic efferents to the striatum, and importantly, these mice show dysfunction in the striatum and motor deficits weeks earlier than the loss of nigral neurons
	ablation of mitochondrial fusion proteins Mfn1 and Mfn2 in the embryonic mouse heart arrested mouse heart development and impaired differentiation of ESCs into cardiomyocytes