The MFN2 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol MFN2
Gene name mitofusin 2
Chromosome 1
Chromosomal band p36.22
Imprinted Unknown
Genomic reference LRG_255
Transcript reference NM_014874.3
Exon/intron information NM_014874.3 exon/intron table
Associated with diseases CMT, CMT2A2A, CMT2A2B, HMSN6A, neuropathy, optic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 368
Unique public DNA variants reported 236
Individuals with public variants 394
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created April 29, 2010
Date last updated December 01, 2021
Version MFN2:211201

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014874.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/MFN2
External URL IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 16877
Entrez Gene 9927
PubMed articles MFN2
OMIM - Gene 608507
OMIM - Diseases CMT2A2A (Charcot-Marie-Tooth disease, type 2A2A (CMT2A2A))
CMT2A2B (Charcot-Marie-Tooth disease, type 2A2B (CMT2A2B))
HMSN6A (neuropathyneuropathy, motor and sensory, hereditary, with optic atrophy, type6A (HMSN6A))
HGMD MFN2
GeneCards MFN2
GeneTests MFN2
Orphanet MFN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012066 1 transcript variant 1 NM_014874.3 NP_055689.1 368


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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