MFN2 Chromosome 1
Mitofusin 2
Upload your DNA to see your personal genotypes for variants in MFN2.
What This Gene Does
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitofusin family
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000116688
Associated Conditions (38)
Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
axonal
autosomal recessive
type 2a2b
Multiple symmetric lipomatosis
Neuropathy
hereditary motor and sensory
type 6A
Inborn genetic diseases
Optic atrophy
Tip-toe gait
Retinal dystrophy
MFN2-related disorder
Hepatocellular carcinoma
Charcot-Marie-Tooth disease type 4
Autosomal dominant and autosomal recessive MFN2-related disorders
Hereditary ataxia
+18 more conditions
Key Variants
RS1040702840
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
Health Risk
RS1057520619
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1060501917
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1064794571
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, axonal
Health Risk
RS1064797107
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS111723244
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
Health Risk
RS1131691782
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS119103264
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases
Health Risk
RS1205882839
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS137960129
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
Health Risk
RS138072432
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS138345244
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
Health Risk
All Variants (229)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS863224968 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS879253777 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS879253939 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Neuropathy |
| RS879254210 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1057517987 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 |
| RS1060501920 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1064795818 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS119103261 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 |
| RS119103263 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 |
| RS119103267 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, autosomal recessive |
| RS1458700065 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, type 2A |
| RS1553142436 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS1557522849 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases |
| RS1557537223 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2 |
| RS1557537346 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, MFN2-related disorder |
| RS1569889919 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS1638739035 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1639043704 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Neuropathy, hereditary motor and sensory |
| RS1639045345 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS28940292 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS755065651 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS757937208 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, axonal, autosomal recessive |
| RS759844257 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS762440627 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS794727035 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS863224069 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Cerebellar ataxia, Charcot-Marie-Tooth disease type 2A2 |
| RS863224967 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2 |
| RS863224969 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 |
| RS866604005 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |