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Gene: MFN2 (mitofusin 2) Homo sapiens
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Symbol: MFN2
Name: mitofusin 2
Description: Exhibits ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of vascular associated smooth muscle cell apoptotic process; positive regulation of vascular smooth muscle cell proliferation; and protein localization to phagophore assembly site. Localizes to the mitochondrion. Implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2; 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
Orthologs:
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,980,181 - 12,013,515 (+)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)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
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