MFN2 (mitofusin 2)

2003-05-01  

Identity

HGNC
MFN2
LOCATION
1p36.22
LOCUSID
9927
ALIAS
CMT2A,CMT2A2,CMT2A2A,CMT2A2B,CPRP1,HMSN6A,HSG,MARF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9927
MIM: 608507
HGNC: 16877
Ensembl: ENSG00000116688

Variants:

dbSNP: 9927
ClinVar: 9927
TCGA: ENSG00000116688
COSMIC: MFN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116688ENST00000235329O95140
ENSG00000116688ENST00000412236Q5JXC5
ENSG00000116688ENST00000444836O95140

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
MitophagyREACTOMER-HSA-5205647
Pink/Parkin Mediated MitophagyREACTOMER-HSA-5205685
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
190526202008Mitofusin 2 tethers endoplasmic reticulum to mitochondria.740
211731152010Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin.476
150647632004Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.460
208710982010Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.326
124993522002Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis.274
125985262003Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity.247
203354582010Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.193
119508852002Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.161
172154032007Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.136
258702852015Mitofusin 2 ablation increases endoplasmic reticulum-mitochondria coupling.132

Citation

Dessen P

MFN2 (mitofusin 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41345/mfn2