MFN2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MFN2
Gene name mitofusin 2
Chromosome 1
Chromosomal band p36.22
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_001127660.1, NM_014874.3
Associated with diseases CMT2A2, HSMN6, MSL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Lishuang Shen
Total number of public variants reported 40
Unique public DNA variants reported 35
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 06, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 16877
Entrez Gene 9927
PubMed articles MFN2
OMIM - Gene 608507
OMIM - Diseases CMT2A2 (CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2)
HSMN6 (NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI)
MSL (LIPOMATOSIS, MULTIPLE SYMMETRIC)
HGMD MFN2
GeneCards MFN2
GeneTests MFN2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000004 1 transcript variant 1 NM_014874.3 NP_055689.1 40
00000005 1 transcript variant 2 NM_001127660.1 NP_001121132.1 40


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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