GENE REFERENCE / HGNC:16877

MFN2

mitofusin 2

protein-coding gene1p36.22Gene information

What does this gene do?

The MFN2 gene provides instructions for making a protein called mitofusin 2. This protein helps determine the shape and structure (morphology) of mitochondria, the energy-producing centers within cells. Mitofusin 2 is made in many types of cells and tissues, including muscles, the spinal cord, and the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound (peripheral nerves).

Within cells, mitofusin 2 is found in the outer membrane that surrounds mitochondria. Mitochondria are dynamic structures that undergo changes in morphology through processes called fission (splitting into smaller pieces) and fusion (combining pieces). These changes in morphology are necessary for mitochondria to function properly. Mitofusin 2 helps to regulate the morphology of mitochondria by controlling the fusion process.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2018-10.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
multiple symmetric lipomatosis with partial lipodystrophyMONDO:1060153 · Evaluated 2025-09-10	Autosomal recessive	DefinitiveMonogenic Diabetes Gene Curation Expert Panel
Charcot-Marie-Tooth disease type 2A2MONDO:0012231 · Evaluated 2026-08-08	Semidominant	DefinitiveCharcot-Marie-Tooth Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,559
Submissions for variants in or overlapping this gene: 3,130
Submissions explicitly reporting this gene: 3,029
Alleles reported pathogenic / likely pathogenic: 220
VariationIDs with uncertain significance: 724
VariationIDs with conflicting classifications: 91

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MFN2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 220 alleles in MFN2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MFN2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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