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Gene

MFN2

mitofusin 2

Summary

Cytogenetic location
1p36.22
Coordinates
Chromosome 1: 11,980,444–12,013,508 (GRCh38)
Exons
19 exons across 33.1 kb
Protein
757 amino acids
Inheritance
Autosomal recessive
Also known as
CPRP1, KIAA0214, MARF, CMT2A2
MANE Select transcript
ENST00000235329.10NM_014874.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Lipodystrophy

    • Multiple symmetric lipomatosis with partial lipodystrophy (MFN2)Autosomal recessive

      Large fatty deposits on the neck and upper body with loss of fat elsewhere, caused by biallelic MFN2 variants.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MFN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where MFN2 sits. MFN2 and 18 genes near it on chromosome 1, from 11,496,976 to 12,496,975.Chromosome 11p36.22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4411.6 Mb11.8 Mb12 Mb12.2 Mb12.4 MbDISP3: 11,478,905–11,537,583, forward strandDISP3FBXO2: 11,637,018–11,655,785, reverse strandFBXO2FBXO44: 11,650,618–11,663,327, forward strandFBXO44MAD2L2: 11,657,230–11,692,605, reverse strandMAD2L2FBXO6: 11,664,141–11,674,354, forward strandFBXO6DRAXIN: 11,690,958–11,725,857, forward strandDRAXINAGTRAP: 11,736,070–11,754,802, forward strandAGTRAPC1orf167: 11,761,787–11,789,585, forward strandC1orf167MTHFR: 11,785,723–11,806,455, reverse strandMTHFRCLCN6: 11,806,096–11,848,080, forward strandCLCN6NPPA: 11,845,701–11,848,345, reverse strandNPPANPPB: 11,857,454–11,859,648, reverse strandNPPBKIAA2013: 11,919,590–11,926,428, reverse strandKIAA2013PLOD1: 11,934,205–11,975,542, forward strandPLOD1MFN2: 11,980,444–12,013,508, forward strandMFN2MIIP: 12,019,466–12,032,048, forward strandMIIPTNFRSF8: 12,063,079–12,144,221, forward strandTNFRSF8TNFRSF1B: 12,166,970–12,209,228, forward strandTNFRSF1BVPS13D: 12,230,007–12,512,047, forward strandVPS13DDiagram of MFN2: 19 exons on the forward strand of chromosome 1Exon 3: 4 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 5: 19 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 24 known disease-causing sitesExon 8: 20 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 21 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 4 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 19: 14 known disease-causing sitesExon 1: 11,980,444–11,980,484, 41 basesExon 2: 11,981,970–11,982,114, 145 basesExon 3: 11,989,165–11,989,343, 179 basesExon 4: 11,992,555–11,992,690, 136 basesExon 5: 11,996,156–11,996,318, 163 basesExon 6: 11,997,297–11,997,421, 125 basesExon 7: 11,998,770–11,998,878, 109 basesExon 8: 11,998,988–11,999,095, 108 basesExon 9: 12,001,401–12,001,554, 154 basesExon 10: 12,001,769–12,001,836, 68 basesExon 11: 12,001,982–12,002,103, 122 basesExon 12: 12,003,992–12,004,118, 127 basesExon 13: 12,004,509–12,004,613, 105 basesExon 14: 12,004,825–12,004,927, 103 basesExon 15: 12,005,711–12,005,931, 221 basesExon 16: 12,006,538–12,006,693, 156 basesExon 17: 12,007,053–12,007,249, 197 basesExon 18: 12,009,592–12,009,726, 135 basesExon 19: 12,011,496–12,013,508, 2,013 bases124681012141618195′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.4 kb of the gene's 33.1 kb; 2,274 of those bases code for the protein.

How a genome test reads MFN2

189

positions in MFN2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 33.1 kb of MFN2, introns included, not only the 4.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MFN2 gene: mitofusin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/mfn2

Vancouver

Dante Labs. MFN2 gene: mitofusin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mfn2

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