Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: MFN2 (mitofusin 2) Homo sapiens
Symbol: MFN2
Name: mitofusin 2
CRRD ID: 732569
Description: Exhibits ubiquitin protein ligase binding activity. Involved in several processes, including mitochondrion organization; positive regulation of vascular associated smooth muscle cell apoptotic process; and positive regulation of vascular associated smooth muscle cell proliferation. Localizes to mitochondrion. Implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2A; Charcot-Marie-Tooth disease type 2A2B; and Charcot-Marie-Tooth disease type 6. Biomarker of Alzheimer's disease; obesity; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1; HMSN6A; HSG; hyperplasia suppressor; KIAA0214; MARF; mitochondrial assembly regulatory factor; mitofusin-2; transmembrane GTPase MFN2
Mus musculus (house mouse) : Mfn2 (mitofusin 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mfn2 (mitofusin 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mfn2 (mitofusin 2)
Pan paniscus (bonobo/pygmy chimpanzee) : MFN2 (mitofusin 2)
Canis lupus familiaris (dog) : MFN2 (mitofusin 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mfn2 (mitofusin 2)
Sus scrofa (pig) : MFN2 (mitofusin 2)
Chlorocebus sabaeus (African green monkey) : MFN2 (mitofusin 2)
Heterocephalus glaber (naked mole-rat) : Mfn2 (mitofusin 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl111,980,181 - 12,013,514 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl111,980,181 - 12,015,211 (+)EnsemblGRCh38hg38GRCh38
GRCh38111,980,215 - 12,013,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,040,238 - 12,073,572 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,962,956 - 11,996,152 (+)NCBINCBI36hg18NCBI36
Build 34111,974,634 - 12,007,833NCBI
Celera111,153,903 - 11,187,236 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,195,001 - 11,228,266 (+)NCBIHuRef
CHM1_1112,028,020 - 12,061,326 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Candidate Gene Status
Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences